Canonical Allele Identifier: PA2830145448
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285464
ClinVar RCV Id: RCV000274489 RCV000653619 RCV003165744 RCV000259898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Val662Met
CA2189216
NM_057164.5:c.1984G>A