Canonical Allele Identifier: PA645400598
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284553
ClinVar RCV Id: RCV000369448 RCV000653515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly109Ser
CA10604838
NM_001848.3:c.325G>A