ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828330975
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1033435
ClinVar RCV Id:
RCV001335850
ClinVar Variation Id:
2239801
ClinVar RCV Id:
RCV002714202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356361.1:p.Glu666del
CA6147999
NM_001369432.1:c.1998_2000del
CA6148001
NM_001369432.1:c.1992_1994del