ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827328265
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2164780
ClinVar RCV Id:
RCV003082276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ser341Cys
CA388039502
NM_001330579.2:c.1022C>G