Canonical Allele Identifier: PA2742003025
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2729579
ClinVar RCV Id: RCV003518610
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Lys507Glu
CA10071923
NM_058175.3:c.1519A>G