×
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:
CA2128589057
Gene: EGLN3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1882321328
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.34375072dup , CM000676.2:g.34375072dup
GRCh38
NC_000014.8:g.34844278dup , CM000676.1:g.34844278dup
GRCh37
NC_000014.7:g.33914029dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000551935.5:n.59+87648dup
Search 100 bp 5'
Search 100 bp 3'