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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:
PA2499275515
Gene: SYN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1007809
ClinVar RCV Id:
RCV001305048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008881.2:p.Pro675Ser
CA412820650
NM_006950.3:c.2023C>T