ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028271
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189109
ClinVar RCV Id:
RCV000169521
RCV001508348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Asp642His
CA274388
NM_001330578.2:c.1924G>C