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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:
CA764067555
Gene:
Linked Data
dbSNP Id:
rs1334087095
gnomAD v3:
2-20973124-CTT-C
gnomAD v4:
2-20973124-CTT-C
MyVariant Identifiers:
chr2:g.21195997_21195998del (hg19)
chr2:g.20973125_20973126del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20973127_20973128del , CM000664.2:g.20973127_20973128del
GRCh38
NC_000002.11:g.21195999_21196000del , CM000664.1:g.21195999_21196000del
GRCh37
NC_000002.10:g.21049496_21049497del
NCBI36
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