ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091814
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188722
ClinVar RCV Id:
RCV000169019
RCV001558241
RCV003390880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ala1018Val
CA273886
NM_000053.4:c.3053C>T