Canonical Allele Identifier: CA1797411918
Gene:

Linked Data

dbSNP Id: rs575542719
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478411G>A , CM000670.2:g.81478411G>A GRCh38
NC_000008.10:g.82390646G>A , CM000670.1:g.82390646G>A GRCh37
NC_000008.9:g.82553201G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745980.1:n.514+16437G>A
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