ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827058502
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30725
ClinVar RCV Id:
RCV000023703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Leu174Arg
CA129416
NM_001320867.2:c.521T>G