Canonical Allele Identifier: PA2580501704
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2126510
ClinVar RCV Id: RCV003047327

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ser686Arg
CA410541353
NM_058175.3:c.2056A>C
CA410541365
NM_058175.3:c.2058C>A
CA410541367
NM_058175.3:c.2058C>G