ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317467
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92386
ClinVar RCV Id:
RCV000487499
RCV000670794
RCV004017388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Glu430Lys
CA220306
NM_001243182.2:c.1288G>A