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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:
CA49315211
Gene:
Linked Data
dbSNP Id:
rs1009809586
gnomAD v2:
2-64503757-CA-C
gnomAD v3:
2-64276623-CA-C
gnomAD v4:
2-64276623-CA-C
MyVariant Identifiers:
chr2:g.64503758del (hg19)
chr2:g.64276624del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.64276624del , CM000664.2:g.64276624del
GRCh38
NC_000002.11:g.64503758del , CM000664.1:g.64503758del
GRCh37
NC_000002.10:g.64357262del
NCBI36
Search 100 bp 5'
Search 100 bp 3'