Canonical Allele Identifier: CA2612218633
Gene:

Linked Data

gnomAD v4: 11-6318917-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318917G>A , CM000673.2:g.6318917G>A GRCh38
NC_000011.9:g.6340147G>A , CM000673.1:g.6340147G>A GRCh37
NC_000011.8:g.6296723G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930997.1:n.720+697G>A
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