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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:
CA917826436
Gene:
Linked Data
dbSNP Id:
rs1582416631
gnomAD v3:
6-105987465-G-GA
gnomAD v4:
6-105987465-G-GA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.105987466dup , CM000668.2:g.105987466dup
GRCh38
NC_000006.11:g.106435341dup , CM000668.1:g.106435341dup
GRCh37
NC_000006.10:g.106542034dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'