Canonical Allele Identifier: PA1139763970
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 941653
ClinVar RCV Id: RCV001211484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Phe297Leu
CA406496226
NM_024301.5:c.889T>C
CA406496230
NM_024301.5:c.891C>A
CA406496231
NM_024301.5:c.891C>G