Canonical Allele Identifier: PA2830146689
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 502397
ClinVar RCV Id: RCV000596949 RCV000791572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg1218His
CA2188959
NM_057165.5:c.3653G>A