Canonical Allele Identifier: PA2830148622
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 453005
ClinVar RCV Id: RCV000522481 RCV000533051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro2508Leu
CA2187287
NM_057166.5:c.7523C>T