Canonical Allele Identifier: PA645400854
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285060
ClinVar RCV Id: RCV000725579 RCV001192867 RCV001240408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Asp223Asn
CA10069647
NM_001848.3:c.667G>A