ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741902862
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2636226
ClinVar RCV Id:
RCV004534385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5438Trp
CA384677487
NM_003482.4:c.16312C>T