Canonical Allele Identifier: CA2625553042
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136420-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136420C>G , CM000676.2:g.73136420C>G GRCh38
NC_000014.8:g.73603128C>G , CM000676.1:g.73603128C>G GRCh37
NC_000014.7:g.72672881C>G NCBI36
NG_007386.2:g.4950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000557356.5:c.-164C>G ENSP00000451498.1:n.-164C>G
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