ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580558717
Gene: FAM83H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2218624
ClinVar RCV Id:
RCV002687341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940890.4:p.Asp347His
CA372468780
NM_198488.5:c.1039G>C