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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:
PA106156
Gene: CANT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280
ClinVar RCV Id:
RCV000000304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153244.1:p.Arg300His
CA114110
NM_001159772.2:c.899G>A