Canonical Allele Identifier: PA2499234738
Gene: ATP7B HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005918.1:p.Arg948Ser
CA6988680
NM_001005918.3:c.2844G>T
CA388026532
NM_001005918.3:c.2844G>C