ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827327350
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188908
ClinVar RCV Id:
RCV000169268
RCV003480071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ser1285Phe
CA274112
NM_001330578.2:c.3854C>T