Canonical Allele Identifier: PA2830146022
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282106
ClinVar RCV Id: RCV000281298 RCV001226883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Asn448Ser
CA2189505
NM_057165.5:c.1343A>G