Canonical Allele Identifier: PA2573295411
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1429890
ClinVar RCV Id: RCV001950197
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Val638Ala
CA10072331
NM_058175.3:c.1913T>C