Canonical Allele Identifier: CA2809162200
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237349G>C , CM000679.2:g.30237349G>C GRCh38
NC_000017.10:g.28564367G>C , CM000679.1:g.28564367G>C GRCh37
NC_000017.9:g.25588493G>C NCBI36
NG_011747.2:g.3588C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+279G>C
XR_001752824.1:n.280+279G>C
Search 100 bp 5'
Search 100 bp 3'