Canonical Allele Identifier: PA2830147652
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542964
ClinVar RCV Id: RCV000653513 RCV002536303 RCV003144450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro1290Leu
CA2188604
NM_057166.5:c.3869C>T