ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827325648
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3069668
ClinVar RCV Id:
RCV004008212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala600Asp
CA388030447
NM_001330578.2:c.1799C>A