ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375985
Gene: EHMT1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_079033.4:p.Gln1043Ter
NM_024757.5:c.[3126_3127del;3129G>T]
NM_024757.5:c.[3126_3127del;3129G>T;3131A...
NM_024757.5:c.3127C>T