ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202515
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158779
ClinVar RCV Id:
RCV000177545
RCV000289783
RCV000659740
RCV001705946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Leu2245Val
CA202514
NM_003482.4:c.6733C>G