Canonical Allele Identifier: PA2499289987
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1062341
ClinVar RCV Id: RCV001372042

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Phe454Leu
CA406497208
NM_024301.5:c.1360T>C
CA406497213
NM_024301.5:c.1362T>A
CA406497214
NM_024301.5:c.1362T>G