Canonical Allele Identifier: PA2830150832
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500167
ClinVar RCV Id: RCV000593008 RCV001860189
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2809Ser
CA2187374
NM_057167.4:c.8425C>T