Canonical Allele Identifier: PA2830148293
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335103
ClinVar RCV Id: RCV000388647 RCV001314534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Lys2077Gln
CA10612833
NM_057166.5:c.6229A>C