ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825388182
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2125231
ClinVar RCV Id:
RCV003040010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Ala135Val
CA406495258
NM_001039885.3:c.404C>T