ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143988
Gene: KCTD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245150.1:p.Ala30Glu
CA143987
NM_001258221.2:c.89C>A