Canonical Allele Identifier: CA2779599240
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176548C>T , CM000670.2:g.31176548C>T GRCh38
NC_000008.10:g.31034064C>T , CM000670.1:g.31034064C>T GRCh37
NC_000008.9:g.31153606C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.229C>T
XR_949643.1:n.87+144G>A
XR_949644.1:n.87+144G>A
XR_949645.1:n.87+144G>A
XR_949646.1:n.87+144G>A
XR_949647.1:n.700+144G>A
XR_949648.1:n.602+144G>A
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