Canonical Allele Identifier: PA1139764257
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 837411
ClinVar RCV Id: RCV001038737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Thr492Met
CA406497442
NM_024301.5:c.1475C>T