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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:
PA2827078282
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242299
ClinVar RCV Id:
RCV000231124
RCV001514746
RCV002262843
RCV002518394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308064.1:p.Cys13Gly
CA7675687
NM_001321135.2:c.37T>G