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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:
PA2828894645
Gene: SOS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40681
ClinVar RCV Id:
RCV000685882
RCV000484403
RCV000787996
RCV004017276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369324.1:p.Arg552Met
CA16616762
NM_001382395.1:c.1655G>T