Canonical Allele Identifier: PA2741889003
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2711951
ClinVar RCV Id: RCV003518192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg79Cys
CA410515712
NM_001848.3:c.235C>T