ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828098297
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2750
ClinVar RCV Id:
RCV000002875
RCV000726591
RCV000787540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Leu34Val
CA252412
NM_001363591.2:c.100C>G