ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828107416
Gene: SAMHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1469587
ClinVar RCV Id:
RCV001973055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350662.1:p.Tyr563Cys
CA9844441
NM_001363733.2:c.1688A>G