ClinGen Allele Registry
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Canonical Allele Identifier:
PA658810227
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521617
ClinVar RCV Id:
RCV000622781
RCV000763851
RCV001821758
RCV001855304
RCV004533295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5027Gln
CA6545604
NM_003482.4:c.15080G>A