ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827329554
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188831
ClinVar RCV Id:
RCV000169179
RCV000362786
RCV002433726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Pro908Leu
CA274013
NM_001330579.2:c.2723C>T