Canonical Allele Identifier: PA2825388154
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2171710
ClinVar RCV Id: RCV003087056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro117Leu
CA406495153
NM_001039885.3:c.350C>T