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: PA891865328

Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 592043

ClinVar RCV Id: RCV000723229

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005227.1:p.Phe851del	CA891863034 NM_005236.3:c.2553_2555del