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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:
PA2828934555
Gene: FGD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946236
ClinVar RCV Id:
RCV001217059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371061.1:p.Thr143Ala
CA384356230
NM_001384132.1:c.427A>G