ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375931
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478457
RCV000736268
RCV001865487
ClinVar Variation:
424013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.Val150Met
CA16617077
NM_000447.3:c.448G>A