ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827058440
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
329442
ClinVar RCV Id:
RCV000332023
RCV000676451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Arg113Leu
CA9487892
NM_001320867.2:c.338G>T