ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827813747
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_001341188.1:p.Thr619Ile
CA375776724
NM_001354259.2:c.1856C>T