ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645453735
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290177
ClinVar RCV Id:
RCV001082322
RCV002392813
RCV000270749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Pro481Ala
CA9532323
NM_024301.5:c.1441C>G