ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827329887
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37122
ClinVar RCV Id:
RCV000023582
RCV000727509
RCV002453275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ile1064Thr
CA259856
NM_001330579.2:c.3191T>C