Canonical Allele Identifier: PA2825388176
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 968453
ClinVar RCV Id: RCV001243589 RCV001835175 RCV002375289
ClinVar Variation Id: 1736422
ClinVar RCV Id: RCV002375422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Gly132Arg
CA309099270
NM_001039885.3:c.394G>A
CA406495244
NM_001039885.3:c.394G>C