ClinGen Allele Registry
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Canonical Allele Identifier:
PA658685812
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487617
ClinVar RCV:
RCV000589895
RCV001459906
ClinVar Variation:
495399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Cys431Arg
CA6989382
NM_000053.4:c.1291T>C