ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827058549
Gene: ETHE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000815727
ClinVar Variation:
658833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Ala243Val
CA406174565
NM_001320867.2:c.728C>T