Canonical Allele Identifier: PA234008
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 167072
ClinVar RCV Id: RCV000473789 RCV000657079 RCV001336093 RCV002415648 RCV001838983 RCV002288663 RCV002298484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro358Leu
CA234007
NM_024301.5:c.1073C>T