Canonical Allele Identifier: CA1818149052
Gene:

Linked Data

dbSNP Id: rs1814931838
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999172C>T , CM000670.2:g.126999172C>T GRCh38
NC_000008.10:g.128011417C>T , CM000670.1:g.128011417C>T GRCh37
NC_000008.9:g.128080599C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7383C>T
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Search 100 bp 3'