ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827328963
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000780926
RCV002223938
ClinVar Variation:
633064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Thr682Met
CA6989069
NM_001330579.2:c.2045C>T