ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329254
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
647202
ClinVar RCV Id:
RCV000801656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala803Thr
CA6988941
NM_001330579.2:c.2407G>A