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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:
PA123237
Gene: ITGB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13558
ClinVar RCV Id:
RCV000014519
RCV000246922
RCV000383813
RCV001799606
RCV001517663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000203.2:p.Leu59Pro
CA123235
NM_000212.3:c.176T>C