ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829713942
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98026
ClinVar RCV Id:
RCV000084308
RCV001071503
RCV003993799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Ile139Thr
CA225019
NM_007318.3:c.416T>C