ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827817369
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196517
ClinVar RCV Id:
RCV000177337
RCV002516737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Pro31Ser
CA243491
NM_001354263.2:c.91C>T