ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA891865560
Gene: ATP8B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289557
ClinVar RCV Id:
RCV000263650
RCV000766301
RCV001122637
RCV004549616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.2:p.Phe305Ile
CA8974703
NM_005603.6:c.913T>A