ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825388675
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284107
ClinVar RCV Id:
RCV000362794
RCV001859592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Thr428Ala
CA10604690
NM_001039885.3:c.1282A>G