Canonical Allele Identifier: CA2552757580
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169808T>A , CM000668.2:g.8169808T>A GRCh38
NC_000006.11:g.8170041T>A , CM000668.1:g.8170041T>A GRCh37
NC_000006.10:g.8115040T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11548T>A
XR_926441.1:n.189+1888T>A
XR_926442.1:n.82+11548T>A
XR_926443.1:n.82+11548T>A
XR_001743950.1:n.179+1888T>A
XR_926440.2:n.74+11548T>A
XR_926441.2:n.179+1888T>A
XR_926443.2:n.83+11548T>A
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