ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160496
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134666
ClinVar RCV Id:
RCV000121374
RCV000731418
RCV001484196
RCV004530006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro741Leu
CA160495
NM_003482.4:c.2222C>T