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: PA2829713837

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98005

ClinVar RCV Id: RCV000084282

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Val78Leu	CA224984 NM_007318.3:c.232G>C CA390303183 NM_007318.3:c.232G>T