ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057348854
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004703152
ClinVar Variation:
3339410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Pro51Thr
CA390302668
NM_007318.3:c.151C>A