ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825005019
Gene: PSEN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Val103_Ser104delinsGly
CA2580088693
NM_000021.3:c.308_310del