ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580451222
Gene: EHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079033.4:p.Ser483Cys
CA375766236
NM_024757.5:c.1448C>G