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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:
PA2825038294
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3070643
ClinVar RCV Id:
RCV004013153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.His640Pro
CA6989173
NM_000053.4:c.1919A>C