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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:
PA2580120961
Gene: RPS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2038414
ClinVar RCV Id:
RCV002894936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002.1:p.Leu27Ile
CA1516555
NM_001011.4:c.79C>A