ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830372245
Gene: CCDC50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2528770
ClinVar RCV Id:
RCV004299109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777568.1:p.Thr28Ile
CA355760666
NM_174908.4:c.83C>T