ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916052023
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
654930
ClinVar RCV Id:
RCV000811002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079033.4:p.Thr974Met
CA5375102
NM_024757.5:c.2921C>T