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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:
PA2826794849
Gene: CSPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2185558
ClinVar RCV Id:
RCV002596207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278268.1:p.Arg580Gly
CA4770945
NM_001291339.2:c.1738C>G