Canonical Allele Identifier: PA658677139
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 453005
ClinVar RCV Id: RCV000522481 RCV000533051
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro3115Leu
CA2187287
NM_004369.4:c.9344C>T