Canonical Allele Identifier: PA658810842
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498126
ClinVar RCV Id: RCV000597963 RCV001229580 RCV004024727
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Pro476His
CA10071871
NM_001849.4:c.1427C>A