ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279761
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ser779Phe
CA388032279
NM_001005918.3:c.2336C>T