ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827817410
Gene: EHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Ala50Val
CA5374191
NM_001354263.2:c.149C>T