Canonical Allele Identifier: PA658659311
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476422
ClinVar RCV Id: RCV000555811 RCV003144367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg644Trp
CA10070655
NM_001848.3:c.1930C>T