ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA147716
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94260
ClinVar RCV Id:
RCV000080223
RCV000264206
RCV000659769
RCV001529421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ala2925Val
CA147715
NM_003482.4:c.8774C>T