ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826184931
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1024494
ClinVar RCV Id:
RCV001324680
RCV003246881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180394.1:p.Ser173Phe
CA8619041
NM_001193465.2:c.518C>T