ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573200458
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Leu979Pro
CA6988790
NM_001330578.2:c.2936T>C