ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645473169
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435094
ClinVar RCV Id:
RCV000501489
RCV000523639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Asp165Gly
CA9487848
NM_014297.5:c.494A>G