Canonical Allele Identifier: PA645433225
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289769
ClinVar RCV Id: RCV000653582 RCV000490233 RCV004529478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly430Ser
CA10071820
NM_001849.4:c.1288G>A