Canonical Allele Identifier: PA916054323
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 193634
ClinVar RCV Id: RCV000311316 RCV000407691 RCV000536085 RCV000724011
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp330Asn
CA239204
NM_058175.3:c.988G>A