Canonical Allele Identifier: PA093960
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4228
ClinVar RCV Id: RCV000004449 RCV003591622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg54Trp
CA116714
NM_001039885.3:c.160C>T
CA2844624990
NM_001039885.3:c.159_160delinsTT