ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499291117
Gene: EHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079033.4:p.Ser1110Phe
CA5375262
NM_024757.5:c.3329C>T