ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139703891
Gene: ATP6V1B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001683.2:p.Arg394Gln
CA347187661
NM_001692.4:c.1181G>A