ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828099099
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
841391
ClinVar RCV Id:
RCV001043600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Pro386Thr
CA380846040
NM_001363592.1:c.1156C>A