Canonical Allele Identifier: PA645400917
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289651
ClinVar RCV Id: RCV000498360 RCV001859702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly311Asp
CA10606509
NM_001848.3:c.932G>A