ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829117122
Gene: ABAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162036
ClinVar RCV Id:
RCV000149900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373532.1:p.Arg92Gln
CA175091
NM_001386603.1:c.275G>A