ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680260
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447669
ClinVar RCV Id:
RCV000516233
RCV001542416
RCV002473031
RCV002525046
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5323His
CA6545452
NM_003482.4:c.15968G>A