ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490397
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287689
ClinVar RCV Id:
RCV000353239
RCV002521979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser4633Leu
CA6545863
NM_003482.4:c.13898C>T