ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499289953
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045410
ClinVar RCV Id:
RCV001349818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gly230Ser
CA9532191
NM_024301.5:c.688G>A