Canonical Allele Identifier: PA2830152426
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340372
ClinVar RCV Id: RCV000346561 RCV000387074 RCV000808997
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asp712Tyr
CA10653709
NM_058174.3:c.2134G>T