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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:
PA2830441064
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709809
ClinVar RCV Id:
RCV002290151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Pro403Thr
CA346502103
NM_199436.2:c.1207C>A