×
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:
PA2826277653
Gene: ELOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376557
ClinVar RCV Id:
RCV000427598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191786.1:p.Tyr79Asn
CA16602983
NM_001204857.2:c.235T>A