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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:
PA2826793858
Gene: FAT4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424428
ClinVar RCV Id:
RCV000483029
RCV001333192
RCV003902733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278232.1:p.Ala2368Glu
CA3073094
NM_001291303.3:c.7103C>A