ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580451298
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2194478
ClinVar RCV Id:
RCV002612520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079033.4:p.Thr650Ile
CA375776724
NM_024757.5:c.1949C>T