Canonical Allele Identifier: PA2830150808
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95013
ClinVar RCV Id: RCV000081018 RCV000375437 RCV001517164 RCV000710917
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Met2782Val
CA148083
NM_057167.4:c.8344A>G