ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826849744
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2747
ClinVar RCV Id:
RCV000002870
RCV001382239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Ile145Thr
CA252411
NM_001300786.2:c.434T>C