ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825280407
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ala1238Val
CA6988417
NM_001005918.3:c.3713C>T