Canonical Allele Identifier: PA2830145304
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 259297
ClinVar RCV Id: RCV000242993 RCV000725228 RCV001141744 RCV001326529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Glu485Lys
CA2189345
NM_057164.5:c.1453G>A