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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:
PA2580462960
Gene: FAT4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2127946
ClinVar RCV Id:
RCV003055741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078858.4:p.Thr383Lys
CA358117297
NM_024582.6:c.1148C>A