Canonical Allele Identifier: PA278958
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216911
ClinVar RCV Id: RCV000197493 RCV000593438
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly699Asp
CA278956
NM_001849.4:c.2096G>A