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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:
PA915994387
Gene: PCCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
702785
ClinVar RCV Id:
RCV000872035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171485.1:p.Arg534Gln
CA2632236
NM_001178014.2:c.1601G>A