ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828508851
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2785104
ClinVar RCV Id:
RCV003633850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361306.1:p.Ser129Phe
CA393619359
NM_001374377.1:c.386C>T