Canonical Allele Identifier: PA2830146842
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 373274
ClinVar RCV Id: RCV000413959 RCV000726933 RCV000704566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro216Ser
CA2189537
NM_057166.5:c.646C>T