ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829116665
Gene: ABAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149899
ClinVar Variation:
162035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373530.1:p.Leu478Pro
CA175088
NM_001386601.1:c.1433T>C