Canonical Allele Identifier: CA2762880464
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499956C>A , CM000666.2:g.102499956C>A GRCh38
NC_000004.11:g.103421113C>A , CM000666.1:g.103421113C>A GRCh37
NC_000004.10:g.103640145C>A NCBI36
NG_050628.1:g.3628C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1293G>T XP_011530769.1:n.643+1293G>T
NR_136202.1:n.48+2483G>T
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