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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:
PA645472331
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432722
ClinVar RCV Id:
RCV000497999
RCV000709819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Arg431Gln
CA346502079
NM_014946.4:c.1292G>A