ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916006932
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009394
RCV000084265
ClinVar Variation:
8846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Met239Val
CA224957
NM_012486.3:c.715A>G