ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573215229
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1685807
ClinVar RCV Id:
RCV002249974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361309.1:p.Val21Phe
CA393615587
NM_001374380.1:c.61G>T