Canonical Allele Identifier: PA645433697
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340381
ClinVar RCV Id: RCV000344482 RCV000401616 RCV000804442 RCV003430869
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr864Met
CA10072940
NM_001849.4:c.2591C>T