ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825279692
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2417163
ClinVar RCV Id:
RCV003111991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Thr726Ile
CA250085201
NM_001005918.3:c.2177C>T