ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317878
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377538
ClinVar RCV Id:
RCV000430661
RCV000667536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ile746Thr
CA16606473
NM_001243182.2:c.2237T>C