ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742033036
Gene: FAM83H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3047415
ClinVar RCV Id:
RCV003949401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940890.4:p.Arg348Cys
CA4917533
NM_198488.5:c.1042C>T