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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828107149
Gene: SAMHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4066
ClinVar RCV Id:
RCV000004281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350662.1:p.Gly209Ser
CA340140
NM_001363733.2:c.625G>A