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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:
PA2825160051
Gene: VDR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
882575
ClinVar RCV Id:
RCV001112342
RCV001856486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000367.1:p.Pro374Arg
CA6533742
NM_000376.3:c.1121C>G