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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573200474
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1528153
ClinVar RCV Id:
RCV002077425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Val995Met
CA6988778
NM_001330578.2:c.2983G>A