Canonical Allele Identifier: PA645455286
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289183
ClinVar RCV Id: RCV000396913 RCV001368271 RCV004021271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1535Cys
CA2188856
NM_004369.4:c.4603C>T