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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
Allele Registry
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Canonical Allele Identifier:
CA1654833061
Gene: MFSD4B-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1771157445
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.111233534_111233543del , CM000668.2:g.111233534_111233543del
GRCh38
NC_000006.11:g.111554737_111554746del , CM000668.1:g.111554737_111554746del
GRCh37
NC_000006.10:g.111661430_111661439del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743806.1:n.348+458_348+467del
XR_001743807.1:n.154+458_154+467del
XR_001743808.1:n.348+458_348+467del
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