Canonical Allele Identifier: PA916054677
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476468
ClinVar RCV Id: RCV000548374 RCV003258877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp803Asn
CA10072551
NM_058175.3:c.2407G>A