ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827818505
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497474
ClinVar RCV Id:
RCV000593453
RCV000764827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Ala1101Thr
CA5375260
NM_001354263.2:c.3301G>A