ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828815242
Gene: KANSL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003839851
ClinVar Variation:
2980693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366127.1:p.Pro775Ser
CA399981031
NM_001379198.1:c.2323C>T