ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243502
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196523
ClinVar RCV Id:
RCV000177343
RCV000701234
RCV002433774
RCV003927644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079033.4:p.Asp100Asn
CA243501
NM_024757.5:c.298G>A