ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827326006
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377538
ClinVar RCV Id:
RCV000430661
RCV000667536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ile779Thr
CA16606473
NM_001330578.2:c.2336T>C