ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829714324
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104001
ClinVar RCV:
RCV000084406
RCV000811198
ClinVar Variation:
98109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Ala405Thr
CA225173
NM_007318.3:c.1213G>A