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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:
CA37703079
Gene:
Linked Data
dbSNP Id:
rs923428987
gnomAD v2:
1-218844902-CTG-C
gnomAD v3:
1-218671560-CTG-C
gnomAD v4:
1-218671560-CTG-C
MyVariant Identifiers:
chr1:g.218844903_218844904del (hg19)
chr1:g.218671561_218671562del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.218671563_218671564del , CM000663.2:g.218671563_218671564del
GRCh38
NC_000001.10:g.218844905_218844906del , CM000663.1:g.218844905_218844906del
GRCh37
NC_000001.9:g.216911528_216911529del
NCBI36
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