ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827817898
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225043
ClinVar RCV Id:
RCV000210678
RCV001853375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Pro429Leu
CA358187
NM_001354263.2:c.1286C>T