ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2595039453
Gene:
Linked Data
dbSNP Id:
rs2144614118
gnomAD v3:
17-50211921-C-A
gnomAD v4:
17-50211921-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211921C>A , CM000679.2:g.50211921C>A
GRCh38
NC_000017.10:g.48289282C>A , CM000679.1:g.48289282C>A
GRCh37
NC_000017.9:g.45644281C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1914C>A
Search 100 bp 5'
Search 100 bp 3'