ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091953
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555650
ClinVar RCV Id:
RCV000671512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Pro1052Leu
CA6988793
NM_000053.4:c.3155C>T