ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499249733
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1038648
ClinVar RCV Id:
RCV001341983
RCV002456483
RCV003331123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ile381Ser
CA250066843
NM_001330579.2:c.1142T>G