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: PA253260

Gene: LDB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4728

ClinVar RCV Id: RCV000004993 RCV000036847 RCV000239669 RCV000493600 RCV000769278 RCV002247249 RCV003162208 RCV003934799

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073585.1:p.Ala165Val	CA253258 NM_001080116.1:c.494C>T