ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825388224
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1176710
ClinVar RCV Id:
RCV001532382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Ala161Val
CA406495414
NM_001039885.3:c.482C>T