ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160582
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134707
ClinVar RCV Id:
RCV000121417
RCV000224122
RCV002515876
RCV001087749
RCV004530011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Thr3221Asn
CA160581
NM_003482.4:c.9662C>A