Canonical Allele Identifier: PA645455300
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290521
ClinVar RCV Id: RCV000340601 RCV001403783
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser1612Leu
CA2188810
NM_004369.4:c.4835C>T