ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915979877
Gene: KCTD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136202.1:p.Ala638Glu
CA143987
NM_001142730.3:c.1913C>A