Canonical Allele Identifier: PA2830147865
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542996
ClinVar RCV Id: RCV000653587 RCV003144453 RCV003163007
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro1534His
CA2188290
NM_057166.5:c.4601C>A