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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:
PA2828934205
Gene: FGD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38443
ClinVar RCV Id:
RCV000031999
RCV000789100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001371059.1:p.Arg349His