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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:
CA577376685
Gene:
Linked Data
dbSNP Id:
rs1401639829
gnomAD v2:
7-114914507-CTA-C
gnomAD v3:
7-115274453-CTA-C
gnomAD v4:
7-115274453-CTA-C
MyVariant Identifiers:
chr7:g.114914508_114914509del (hg19)
chr7:g.115274454_115274455del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.115274454_115274455del , CM000669.2:g.115274454_115274455del
GRCh38
NC_000007.13:g.114914508_114914509del , CM000669.1:g.114914508_114914509del
GRCh37
NC_000007.12:g.114701744_114701745del
NCBI36
Search 100 bp 5'
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