ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103994
Gene: KCTD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55888
ClinVar RCV Id:
RCV000049299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129677.1:p.Gly62Asp
CA144001
NM_001136205.2:c.185G>A