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: PA2499242388

Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1168240

ClinVar RCV Id: RCV001528747 RCV001518342

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229819.2:p.Met17Val	CA4262512 NM_001242890.2:c.49A>G CA2573142191 NM_001242890.2:c.48_49delinsTG