ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830032548
Gene: AAGAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3131940
ClinVar RCV Id:
RCV004418799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078942.3:p.Asn169Ser
CA7627082
NM_024666.5:c.506A>G