Canonical Allele Identifier: PA2830151955
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199070
ClinVar RCV Id: RCV000180577 RCV001141472 RCV001212040 RCV004020175
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Glu311Asp
CA248067
NM_058174.3:c.933A>T
CA410526857
NM_058174.3:c.933A>C