ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827883902
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252744
ClinVar RCV Id:
RCV000238613
RCV000824396
RCV004020980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341540.1:p.Ser146Leu
CA5374304
NM_001354611.2:c.437C>T