ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317857
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188879
ClinVar RCV Id:
RCV000169233
RCV000333003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Pro729Leu
CA274072
NM_001243182.2:c.2186C>T