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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:
PA2825038664
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073220
ClinVar RCV Id:
RCV004015234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Pro1037Leu
CA388030388
NM_000053.4:c.3110C>T