Canonical Allele Identifier: CA2665005593
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993207-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993207C>G , CM000665.2:g.36993207C>G GRCh38
NC_000003.11:g.37034698C>G , CM000665.1:g.37034698C>G GRCh37
NC_000003.10:g.37009702C>G NCBI36
NG_007109.2:g.4858C>G , LRG_216:g.4858C>G
NG_008418.1:g.5098G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-130G>C NP_055620.1:n.-130G>C
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