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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:
PA2825928404
Gene: SYT14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30861
ClinVar RCV Id:
RCV000023846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139734.1:p.Gly439Asp
CA129507
NM_001146262.4:c.1316G>A