ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829713923
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98022
ClinVar RCV Id:
RCV000084303
RCV000824341
RCV003387756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Asn131Ser
CA225013
NM_007318.3:c.392A>G