Canonical Allele Identifier: PA2499295604
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049390

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ser685Leu
CA321972637
NM_058175.3:c.2054C>T