ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317287
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426499
ClinVar RCV Id:
RCV000489206
RCV000613956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ser271Cys
CA6989434
NM_001243182.2:c.812C>G