ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174779
Gene: FBH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161784
ClinVar RCV Id:
RCV000149320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116196.3:p.Arg754Trp
CA174778
NM_032807.5:c.2260C>T