ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913199100
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ile76Val
CA6989601
NM_001005918.3:c.226A>G