Canonical Allele Identifier: PA645400889
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280099
ClinVar RCV Id: RCV000387642 RCV001855058
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly281Glu
CA10603503
NM_001848.3:c.842G>A