ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826849664
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375458
ClinVar RCV Id:
RCV001883355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Asp58Asn
CA380834616
NM_001300786.2:c.172G>A