Canonical Allele Identifier: PA2830145470
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542997
ClinVar RCV Id: RCV000653588 RCV003144454 RCV004025911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Val685Ile
CA2189202
NM_057164.5:c.2053G>A