ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826850207
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1457853
ClinVar RCV Id:
RCV001972730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287716.1:p.Thr177Ser
CA380838932
NM_001300787.2:c.529A>T