ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1021127319
Gene:
Linked Data
dbSNP Id:
rs1981477724
gnomAD v3:
21-22259291-T-C
gnomAD v4:
21-22259291-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259291T>C , CM000683.2:g.22259291T>C
GRCh38
NC_000021.8:g.23631611T>C , CM000683.1:g.23631611T>C
GRCh37
NC_000021.7:g.22553482T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46478T>C
Search 100 bp 5'
Search 100 bp 3'