ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028275
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487715
ClinVar RCV:
RCV000587250
RCV001001851
RCV001003423
RCV002530885
RCV003905504
ClinVar Variation:
495404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Met665Val
CA6989142
NM_001330578.2:c.1993A>G