ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827813248
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_001341188.1:p.Ser115Leu
CA5374304
NM_001354259.2:c.344C>T