ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827813832
Gene: EHMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
102041
ClinVar RCV:
RCV000082223
RCV000263726
RCV002426646
ClinVar Variation:
96147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341188.1:p.Ser698Leu
CA223766
NM_001354259.2:c.2093C>T