Canonical Allele Identifier: PA2499289949
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1051148
ClinVar RCV Id: RCV001359145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Asp195Tyr
CA406495607
NM_024301.5:c.583G>T