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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA817169991
Gene: MFSD4B-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1281541338
MyVariant Identifiers:
chr6:g.111554736_111554737insAGGTTACCACTGACC (hg19)
chr6:g.111233533_111233534insAGGTTACCACTGACC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.111233533_111233534insAGGTTACCACTGACC , CM000668.2:g.111233533_111233534insAGGTTACCACTGACC
GRCh38
NC_000006.11:g.111554736_111554737insAGGTTACCACTGACC , CM000668.1:g.111554736_111554737insAGGTTACCACTGACC
GRCh37
NC_000006.10:g.111661429_111661430insAGGTTACCACTGACC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001743806.1:n.348+465_348+466insGGTCAGTGGTAACCT
XR_001743807.1:n.154+465_154+466insGGTCAGTGGTAACCT
XR_001743808.1:n.348+465_348+466insGGTCAGTGGTAACCT
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