ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073559642
Gene: KCTD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694578.1:p.Arg184Ser
CA367696741
NM_153033.5:c.550C>A