Canonical Allele Identifier: PA2830150411
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94986
ClinVar RCV Id: RCV000080991 RCV000548028 RCV004019560 RCV004549516
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser2261Leu
CA148027
NM_057167.4:c.6782C>T