Canonical Allele Identifier: PA658817427
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501799
ClinVar RCV Id: RCV000593811 RCV001141967 RCV003631139
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg280Leu
CA2189766
NM_004369.4:c.839G>T