ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191330
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000736265
ClinVar Variation:
599626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Thr122Ala
CA390304742
NM_000021.3:c.364A>G