ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279648
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000670079
RCV001509442
ClinVar Variation:
554444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Thr688Ile
CA6988979
NM_001005918.3:c.2063C>T