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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:
PA2741924743
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2847598
ClinVar RCV Id:
RCV003750212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Asn175Ser
CA361490962
NM_005859.5:c.524A>G