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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:
PA2573252084
Gene: SOS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1348897
ClinVar RCV Id:
RCV002046661
RCV002324226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008870.2:p.Cys1112Tyr
CA7176841
NM_006939.4:c.3335G>A