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: PA2573075616

Gene: CC2D2A HGNC NCBI

Linked Data

ClinVar Variation Id: 421683

ClinVar RCV Id: RCV000765762 RCV000726978 RCV001081324 RCV004535520

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365544.1:p.Val1290Ala	CA2864250 NM_001378615.1:c.3869T>C