ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270086
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143127
ClinVar RCV Id:
RCV000132651
RCV001781480
RCV002478405
RCV003888561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Arg255Trp
CA270085
NM_004183.3:c.763C>T