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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:
PA095804
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68304
ClinVar RCV Id:
RCV000059156
RCV001290895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu578Arg
CA219405
NM_001042492.3:c.1733T>G