Canonical Allele Identifier: PA2830150431
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476557
ClinVar RCV Id: RCV000528355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser2286Leu
CA2187796
NM_057167.4:c.6857C>T