Canonical Allele Identifier: PA2830145984
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1432633
ClinVar RCV Id: RCV001959912
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Val396Leu
CA351216737
NM_057165.5:c.1186G>T
CA351216738
NM_057165.5:c.1186G>C