Canonical Allele Identifier: PA2830147344
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199091
ClinVar RCV Id: RCV000249892 RCV000653662 RCV001711471 RCV002516823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr799Met
CA248093
NM_057166.5:c.2396C>T