ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828510065
Gene: ATP8B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7267
ClinVar RCV Id:
RCV000007689
RCV000007690
RCV000723736
RCV003155019
RCV004547464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361315.1:p.Ile611Thr
CA254134
NM_001374386.1:c.1832T>C