ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172443
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158791
ClinVar RCV Id:
RCV000146242
RCV002515964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg3164Gln
CA172442
NM_003482.4:c.9491G>A