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: PA916006012

Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 17811

ClinVar RCV Id: RCV000019389

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229819.2:p.Phe309Leu	CA127446 NM_001242890.2:c.925T>C CA367538062 NM_001242890.2:c.927T>G CA367538063 NM_001242890.2:c.927T>A