Canonical Allele Identifier: PA2825388755
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 162562
ClinVar RCV Id: RCV000724960 RCV002390319 RCV000684981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro481His
CA295345
NM_001039885.3:c.1442C>A