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: PA253267

Gene: LDB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4734

ClinVar RCV Id: RCV000004999 RCV000770148

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073585.1:p.Lys128Met	CA253265 NM_001080116.1:c.383A>T