Canonical Allele Identifier: PA645401094
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286928
ClinVar RCV Id: RCV000260990 RCV000316226
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly556Arg
CA10605615
NM_001848.3:c.1666G>A
CA410530630
NM_001848.3:c.1666G>C