ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810602
Gene: KANSL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180395.1:p.Ser827Phe
CA8618554
NM_001193466.2:c.2480C>T