ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826317612
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495404
ClinVar RCV Id:
RCV000587250
RCV001003423
RCV001001851
RCV002530885
RCV003905504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Met554Val
CA6989142
NM_001243182.2:c.1660A>G