ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827328938
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala672Val
CA6989077
NM_001330579.2:c.2015C>T