ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827818234
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96149
ClinVar RCV Id:
RCV000082225
RCV001304186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Ala830Thr
CA223770
NM_001354263.2:c.2488G>A