Canonical Allele Identifier: PA2830146369
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 449785
ClinVar RCV Id: RCV000661955 RCV000661956 RCV000727405 RCV000661957 RCV003278864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Asp868Asn
CA2189212
NM_057165.5:c.2602G>A