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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:
PA199217
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189318
ClinVar RCV Id:
RCV000169738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Ile206Phe
CA199216
NM_005859.5:c.616A>T