ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222018
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94171
ClinVar RCV Id:
RCV000080134
RCV001344020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg4729Trp
CA222017
NM_003482.4:c.14185C>T