Canonical Allele Identifier: CA1480021947
Gene:

Linked Data

dbSNP Id: rs1722560793
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474277A>C , CM000666.2:g.99474277A>C GRCh38
NC_000004.11:g.100395434A>C , CM000666.1:g.100395434A>C GRCh37
NC_000004.10:g.100614457A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2415T>G
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Search 100 bp 3'