ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490396
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285849
ClinVar RCV Id:
RCV000405022
RCV000851303
RCV001859633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser4624Leu
CA10605272
NM_003482.4:c.13871C>T