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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:
PA658818594
Gene: SOS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
512472
ClinVar RCV Id:
RCV000612167
RCV003591760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008870.2:p.Tyr1275Cys
CA7176697
NM_006939.4:c.3824A>G