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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:
PA2828933396
Gene: FGD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242314
ClinVar RCV Id:
RCV000233379
RCV000558088
RCV001112953
RCV002450716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371056.1:p.Leu110Pro
CA6506617
NM_001384127.1:c.329T>C