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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:
PA2499233872
Gene: ALOX12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1233269
ClinVar RCV Id:
RCV001617394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000688.2:p.Asn322Ser
CA8333381
NM_000697.3:c.965A>G