Canonical Allele Identifier: PA2573285843
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1423967
ClinVar RCV Id: RCV001954943 RCV003146366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro475Leu
CA406497339
NM_024301.5:c.1424C>T