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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:
PA2826331324
Gene: FANCC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1769318
ClinVar RCV Id:
RCV002380756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230672.1:p.Pro342Leu
CA374108184
NM_001243743.2:c.1025C>T