ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573200582
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1364284
ClinVar RCV Id:
RCV001937418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ser343Pro
CA388039449
NM_001330579.2:c.1027T>C