ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670627
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ser744Phe
CA388022464
NM_000053.4:c.2231C>T