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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:
CA833710485
Gene:
Linked Data
dbSNP Id:
rs1341618680
MyVariant Identifiers:
chr7:g.13553948del (hg19)
chr7:g.13514323del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13514324del , CM000669.2:g.13514324del
GRCh38
NC_000007.13:g.13553949del , CM000669.1:g.13553949del
GRCh37
NC_000007.12:g.13520474del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745097.1:n.148-187992del
Search 100 bp 5'
Search 100 bp 3'