ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916075621
Gene: CCDC50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
674311
ClinVar RCV Id:
RCV000833625
RCV004029214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848018.1:p.Ser200Leu
CA2755287
NM_178335.3:c.599C>T