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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:
PA255606
Gene: SH2D1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10908
ClinVar RCV Id:
RCV000011655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002342.1:p.Met1Ile