ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827818077
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_001341192.1:p.Thr643Ile
CA375776724
NM_001354263.2:c.1928C>T