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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:
PA2827308472
Gene: FGD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849450
ClinVar RCV Id:
RCV001053413
RCV001114311
RCV001759791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317303.1:p.Ser151Leu
CA6506711
NM_001330374.1:c.452C>T