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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:
PA2826154517
Gene: FMR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372871
ClinVar RCV Id:
RCV000413972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001172011.1:p.Tyr398Cys
CA16043179
NM_001185082.2:c.1193A>G