Canonical Allele Identifier: PA2825388746
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 528825
ClinVar RCV Id: RCV000634073 RCV000671168 RCV000731349 RCV003488744 RCV003459515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ile478Thr
CA406497356
NM_001039885.3:c.1433T>C