ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826318059
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35712
ClinVar RCV Id:
RCV000029361
RCV000505878
RCV000255583
RCV002513236
RCV003904863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Thr880Met
CA090896
NM_001243182.2:c.2639C>T