Canonical Allele Identifier: PA2829328719
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_001840.3:p.Val638del
CA638497866
NM_001849.4:c.1912_1914del