ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825279309
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917697
ClinVar RCV Id:
RCV001174860
RCV001828588
RCV002327425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ile390Val
CA6989427
NM_001005918.3:c.1168A>G