×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830440952
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188190
ClinVar RCV Id:
RCV000168104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Thr357Ala
CA334274
NM_199436.2:c.1069A>G