ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329724
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Val989Met
CA6988778
NM_001330579.2:c.2965G>A