ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA098022
Gene: EARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39792
ClinVar RCV Id:
RCV000033014
RCV001731474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077083.1:p.Cys167Tyr
CA130562
NM_001083614.1:c.500G>A