ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279775
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188831
ClinVar RCV Id:
RCV000169179
RCV000362786
RCV002433726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Pro785Leu
CA274013
NM_001005918.3:c.2354C>T