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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:
CA725088543
Gene:
Linked Data
dbSNP Id:
rs1351987651
gnomAD v3:
16-8467783-GC-G
gnomAD v4:
16-8467783-GC-G
MyVariant Identifiers:
chr16:g.8517786del (hg19)
chr16:g.8467784del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.8467787del , CM000678.2:g.8467787del
GRCh38
NC_000016.9:g.8517789del , CM000678.1:g.8517789del
GRCh37
NC_000016.8:g.8457790del
NCBI36
Search 100 bp 5'
Search 100 bp 3'