ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139728213
Gene: CILK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057597.2:p.Ala353Val
CA364468738
NM_016513.5:c.1058C>T