Canonical Allele Identifier: PA2830152396
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_478054.2:p.Ala690Gly
CA410541416
NM_058174.3:c.2069C>G