ClinGen Allele Registry
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Canonical Allele Identifier:
PA916006144
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
554311
ClinVar RCV Id:
RCV000669922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Gly978Glu
CA388028869
NM_001243182.2:c.2933G>A