Canonical Allele Identifier: PA2825388502
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2441450
ClinVar RCV Id: RCV003143991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg320Cys
CA406496362
NM_001039885.3:c.958C>T