ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA223787
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96166
ClinVar RCV Id:
RCV000082243
RCV000348835
RCV003974987
RCV004019575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079033.4:p.Pro192Leu
CA223786
NM_024757.5:c.575C>T