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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:
PA2827435114
Gene: SLC6A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421676
ClinVar RCV Id:
RCV000481964
RCV003444551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335179.1:p.Gln106Arg
CA16617797
NM_001348250.2:c.317A>G