ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222117
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94259
ClinVar RCV Id:
RCV000080222
RCV001399288
RCV004537353
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro2763Leu
CA222116
NM_003482.4:c.8288C>T