ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827324792
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487729
ClinVar RCV:
RCV000589823
RCV001111262
RCV002530887
ClinVar Variation:
495422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Val149Met
CA6989561
NM_001330578.2:c.445G>A