Canonical Allele Identifier: CA1318169494
Gene:

Linked Data

dbSNP Id: rs1688123826
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007142G>T , CM000664.2:g.195007142G>T GRCh38
NC_000002.11:g.195871866G>T , CM000664.1:g.195871866G>T GRCh37
NC_000002.10:g.195580111G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739836.1:n.553+52293C>A
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