ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825279749
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3064956
ClinVar RCV Id:
RCV003990033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Thr770Lys
CA388032373
NM_001005918.3:c.2309C>A