ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827813727
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000116959
RCV000547981
RCV002316302
RCV003964980
ClinVar Variation:
128977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341188.1:p.Asn591Ser
CA231083
NM_001354259.2:c.1772A>G