ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028270
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420002
ClinVar RCV Id:
RCV000631248
RCV001263514
RCV000587060
RCV002525825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Leu641Ser
CA6989172
NM_001330578.2:c.1922T>C