Canonical Allele Identifier: CA2381739196
Gene:

Linked Data

dbSNP Id: rs1981482176
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259395G>A , CM000683.2:g.22259395G>A GRCh38
NC_000021.8:g.23631715G>A , CM000683.1:g.23631715G>A GRCh37
NC_000021.7:g.22553586G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46582G>A
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