Canonical Allele Identifier: PA2825388212
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 289565
ClinVar RCV Id: RCV000408156 RCV000464325 RCV000765452 RCV000710136 RCV001275311 RCV002338856 RCV003224253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ser152Arg
CA9532153
NM_001039885.3:c.456C>G
CA406495358
NM_001039885.3:c.454A>C
CA406495364
NM_001039885.3:c.456C>A