Canonical Allele Identifier: PA2830145534
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284966
ClinVar RCV Id: RCV000367831 RCV000765644 RCV002518954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ile760Phe
CA10604971
NM_057164.5:c.2278A>T