Canonical Allele Identifier: PA645453508
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 391769
ClinVar RCV Id: RCV000432470 RCV000475297
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Leu171Val
CA9532157
NM_024301.5:c.511C>G