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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:
PA199214
Gene: ITPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189316
ClinVar RCV Id:
RCV000169736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002214.2:p.Gly2498Ser
CA199213
NM_002223.4:c.7492G>A