ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318705
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35730
ClinVar RCV Id:
RCV000029379
RCV000251030
RCV000224611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Thr1323Met
CA260152
NM_001243182.2:c.3968C>T