ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827058482
Gene: ETHE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000599431
ClinVar Variation:
504500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Arg152Gly
CA406175476
NM_001320867.2:c.454C>G