ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827058453
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496426
ClinVar RCV Id:
RCV000587866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Thr125Ala
CA406175649
NM_001320867.2:c.373A>G