ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499229005
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1072934
ClinVar RCV Id:
RCV002551543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Lys230Gln
CA345439238
NM_000143.4:c.688A>C