Canonical Allele Identifier: PA2573295405
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1448294
ClinVar RCV Id: RCV002002217

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asn636Tyr
CA410538801
NM_058175.3:c.1906A>T