Canonical Allele Identifier: PA2573285840
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1353474
ClinVar RCV Id: RCV001873875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg467His
CA9532313
NM_024301.5:c.1400G>A