ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573100400
Gene: CCDC50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1309541
ClinVar RCV Id:
RCV001765710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848018.1:p.Glu185Lys
CA2755281
NM_178335.3:c.553G>A