Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA097317

Gene: CCBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 445

ClinVar RCV Id: RCV000000474 RCV000434998

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597716.1:p.Cys75Ser	CA278003 NM_133459.4:c.223T>A CA402593569 NM_133459.4:c.224G>C