ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916027080
Gene: ALG13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386580
ClinVar RCV Id:
RCV000420228
RCV000650340
RCV002356585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311221.1:p.Ala406Val
CA16608244
NM_001324292.2:c.1217C>T