ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680278
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449044
ClinVar RCV Id:
RCV000523702
RCV001261320
RCV004541628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5500Trp
CA384675752
NM_003482.4:c.16498C>T