ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA175449
Gene: CCDC50
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848018.1:p.Ala382Thr
CA175448
NM_178335.3:c.1144G>A