Canonical Allele Identifier: PA645401278
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420901
ClinVar RCV Id: RCV000537709 RCV000734240 RCV004526689 RCV004535516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val916Ile
CA10071020
NM_001848.3:c.2746G>A