ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826080725
Gene: ITM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3111673
ClinVar RCV Id:
RCV004398533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165052.1:p.Arg185His
CA10460966
NM_001171581.2:c.554G>A