ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091943
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
557466
ClinVar RCV Id:
RCV000673614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Met1169Thr
CA388026285
NM_000053.4:c.3506T>C