Canonical Allele Identifier: PA645400924
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 340312
ClinVar RCV Id: RCV000297988 RCV001486298
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly329Arg
CA10069950
NM_001848.3:c.985G>A
CA410522699
NM_001848.3:c.985G>C