ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741809049
Gene: PSEN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Asn32Ser
CA7256670
NM_000021.3:c.95A>G