ClinGen Allele Registry
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Canonical Allele Identifier:
PA645489162
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
309065
ClinVar RCV Id:
RCV000277260
RCV000659716
RCV001706470
RCV004544537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg1388Leu
CA6547878
NM_003482.4:c.4163G>T