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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:
PA2825827633
Gene: SYT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1192312
ClinVar RCV Id:
RCV001553804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129976.1:p.Asp361_Leu365del
CA2499214410
NM_001136504.1:c.1082_1096del