Canonical Allele Identifier: CA1318169454
Gene:

Linked Data

dbSNP Id: rs1688119651
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007038T>C , CM000664.2:g.195007038T>C GRCh38
NC_000002.11:g.195871762T>C , CM000664.1:g.195871762T>C GRCh37
NC_000002.10:g.195580007T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52397A>G
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