ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827419776
Gene: CCDC171
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161830
ClinVar RCV Id:
RCV000149366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334931.1:p.Arg717Trp
CA174867
NM_001348002.2:c.2149C>T