Allele Registry

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.

Canonical Allele Identifier: PA091194

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98040

ClinVar RCV Id: RCV000084324

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ser169Pro	CA225044 NM_000021.3:c.505T>C