Canonical Allele Identifier: PA2573285600
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1426266
ClinVar RCV Id: RCV001931236 RCV004044313
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Phe240Leu
CA406495876
NM_024301.5:c.718T>C
CA406495880
NM_024301.5:c.720C>A
CA406495881
NM_024301.5:c.720C>G