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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:
PA2825561544
Gene: IQSEC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2810846
ClinVar RCV Id:
RCV003622594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104595.1:p.His993Tyr
CA413149023
NM_001111125.3:c.2977C>T