Canonical Allele Identifier: PA645453702
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 290648
ClinVar RCV Id: RCV000399945

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Phe441Leu
CA10606861
NM_024301.5:c.1323T>G
CA406497129
NM_024301.5:c.1321T>C
CA406497134
NM_024301.5:c.1323T>A