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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:
PA645462010
Gene: VDR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381603
ClinVar RCV Id:
RCV000421461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017535.1:p.Arg343Cys
CA16606541
NM_001017535.2:c.1027C>T