Canonical Allele Identifier: PA658817687
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542996
ClinVar RCV Id: RCV000653587 RCV003144453 RCV003163007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2141His
CA2188290
NM_004369.4:c.6422C>A