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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:
PA2825318505
Gene: VDR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040776
ClinVar RCV Id:
RCV001344475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017535.1:p.Pro372Leu
CA6533743
NM_001017535.2:c.1115C>T