ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827813888
Gene: EHMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116960
RCV002528212
ClinVar Variation:
128978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341188.1:p.Pro778Leu
CA231085
NM_001354259.2:c.2333C>T