Canonical Allele Identifier: PA913196958
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634467
ClinVar RCV Id: RCV000784949
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ala690Gly
CA410541416
NM_001849.4:c.2069C>G