ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645489295
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290420
ClinVar RCV Id:
RCV000366916
RCV004537611
RCV003114459
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Thr2137Ala
CA6547274
NM_003482.4:c.6409A>G