Canonical Allele Identifier: CA2809162075
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237092C>A , CM000679.2:g.30237092C>A GRCh38
NC_000017.10:g.28564110C>A , CM000679.1:g.28564110C>A GRCh37
NC_000017.9:g.25588236C>A NCBI36
NG_011747.2:g.3845G>T

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+22C>A
XR_001752824.1:n.280+22C>A
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