ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113743
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99706
ClinVar RCV Id:
RCV000086118
RCV001073998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Ala10Thr
CA227759
NM_004183.3:c.28G>A