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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:
PA2828533824
Gene: VDR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308887
ClinVar RCV Id:
RCV000601968
RCV000988816
RCV001512350
RCV003992273
ClinVar Variation Id:
1909890
ClinVar RCV Id:
RCV002587605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361591.1:p.Met1Thr
CA2580085458
NM_001374662.1:c.2_3delinsCA