Canonical Allele Identifier: PA2830147628
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289097
ClinVar RCV Id: RCV000284088 RCV001224918 RCV004021269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ser1275Leu
CA2188617
NM_057166.5:c.3824C>T