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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:
PA2827326326
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374060
ClinVar RCV Id:
RCV000415306
RCV001198322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gly910Glu
CA16043475
NM_001330578.2:c.2729G>A