Canonical Allele Identifier: PA2830145763
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499670
ClinVar RCV Id: RCV000591218 RCV003631135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg135Leu
CA351222413
NM_057165.5:c.404G>T