ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829713927
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18128
ClinVar RCV Id:
RCV000019756
RCV000084304
RCV003764610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Met135Val
CA225015
NM_007318.3:c.403A>G