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: PA118992

Gene: LIG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7678

ClinVar RCV Id: RCV000008117

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002303.2:p.Gln433del	CA118990 NM_002312.3:c.1298_1300del CA388617858 NM_002312.3:c.1297C>T