ClinGen Allele Registry
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Canonical Allele Identifier:
PA091837
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
462961
ClinVar RCV:
RCV000532036
RCV001091641
RCV002448619
ClinVar Variation:
456553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Arg778Trp
CA6989058
NM_000053.4:c.2332C>T