ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573072882
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
557452
ClinVar RCV Id:
RCV000673595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361309.1:p.His133Leu
CA7691145
NM_001374380.1:c.398A>T