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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:
CA523689993
Gene:
Linked Data
dbSNP Id:
rs1293685340
gnomAD v2:
1-64868402-CA-C
gnomAD v3:
1-64402719-CA-C
gnomAD v4:
1-64402719-CA-C
MyVariant Identifiers:
chr1:g.64868403del (hg19)
chr1:g.64402720del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.64402725del , CM000663.2:g.64402725del
GRCh38
NC_000001.10:g.64868408del , CM000663.1:g.64868408del
GRCh37
NC_000001.9:g.64640996del
NCBI36
Search 100 bp 5'
Search 100 bp 3'