ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA169032
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142654
ClinVar RCV Id:
RCV000131997
RCV001029752
RCV002514749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Ser186Asn
CA169030
NM_000143.4:c.557G>A