ClinGen Allele Registry
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Canonical Allele Identifier:
PA915955078
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495415
ClinVar RCV Id:
RCV000586771
RCV000666672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Arg944His
CA6988682
NM_001005918.3:c.2831G>A