ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827818525
Gene: EHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Arg1118Ser
CA5375296
NM_001354263.2:c.3354G>C
CA5375297
NM_001354263.2:c.3354G>T