×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741919562
Gene: ERCC4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2940298
ClinVar RCV Id:
RCV003797656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005227.1:p.His807Asn
CA278485603
NM_005236.3:c.2419C>A