ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829483299
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1351735
ClinVar RCV Id:
RCV002044953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Pro297His
CA380843771
NM_004183.3:c.890C>A