Canonical Allele Identifier: CA2762880466
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102500023G>A , CM000666.2:g.102500023G>A GRCh38
NC_000004.11:g.103421180G>A , CM000666.1:g.103421180G>A GRCh37
NC_000004.10:g.103640212G>A NCBI36
NG_050628.1:g.3695G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1226C>T XP_011530769.1:n.643+1226C>T
NR_136202.1:n.48+2416C>T
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