ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828330606
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401661
ClinVar RCV Id:
RCV001913019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356358.1:p.Ser556del
CA6148042
NM_001369429.1:c.1667_1669del