Canonical Allele Identifier: CA2638676329
Gene:

Linked Data

dbSNP Id: rs1567770257
gnomAD v4: 17-50211871-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50211871G>A , CM000679.2:g.50211871G>A GRCh38
NC_000017.10:g.48289232G>A , CM000679.1:g.48289232G>A GRCh37
NC_000017.9:g.45644231G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934838.1:n.43-1964G>A
Search 100 bp 5'
Search 100 bp 3'