ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827817845
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000320747
ClinVar Variation:
366001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Ser376Leu
CA5374508
NM_001354263.2:c.1127C>T