ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827818162
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96147
ClinVar RCV Id:
RCV000082223
RCV000263726
RCV002426646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Ser722Leu
CA223766
NM_001354263.2:c.2165C>T