Canonical Allele Identifier: CA2516122023
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108623G>T , CM000678.2:g.49108623G>T GRCh38
NC_000016.9:g.49142534G>T , CM000678.1:g.49142534G>T GRCh37
NC_000016.8:g.47700035G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1321C>A
XR_001752138.2:n.591+5353C>A
XR_933517.2:n.810+1321C>A
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