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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:
CA1654833064
Gene: MFSD4B-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1771157537
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.111233535_111233536insCCTAGGAA , CM000668.2:g.111233535_111233536insCCTAGGAA
GRCh38
NC_000006.11:g.111554738_111554739insCCTAGGAA , CM000668.1:g.111554738_111554739insCCTAGGAA
GRCh37
NC_000006.10:g.111661431_111661432insCCTAGGAA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743806.1:n.348+463_348+464insTTCCTAGG
XR_001743807.1:n.154+463_154+464insTTCCTAGG
XR_001743808.1:n.348+463_348+464insTTCCTAGG
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