Canonical Allele Identifier: PA916054530
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 664052
ClinVar RCV Id: RCV000822058
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Val638del
CA638497866
NM_058175.3:c.1912_1914del