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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:
PA2829310632
Gene: CASP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7762
ClinVar RCV Id:
RCV000008203
RCV000454902
RCV000308703
RCV001711066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001387577.1:p.Asp285His
CA119051
NM_001400648.1:c.853G>C