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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:
PA2825187397
Gene: PCCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008157
ClinVar RCV Id:
RCV001305446
RCV004036352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000523.2:p.Pro154Ser
CA354739594
NM_000532.5:c.460C>T