Canonical Allele Identifier: PA658659282
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476441
ClinVar RCV Id: RCV000557620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly290Trp
CA410521749
NM_001848.3:c.868G>T