Canonical Allele Identifier: PA2830146183
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282127
ClinVar RCV Id: RCV000287686 RCV001301947 RCV003330620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Phe636Ser
CA2189376
NM_057165.5:c.1907T>C