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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:
PA2829714003
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2939037
ClinVar RCV Id:
RCV003791763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Ala160Asp
CA390295947
NM_007318.3:c.479C>A