Canonical Allele Identifier: PA2573220221
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423960
ClinVar RCV Id: RCV001921301
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg325Gly
CA10069945
NM_001848.3:c.973C>G