ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573091557
Gene: KATNIP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056017.4:p.Ser950Leu
CA7978082
NM_015202.5:c.2849C>T