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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:
PA2826330893
Gene: FANCC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1464205
ClinVar RCV Id:
RCV001963404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230672.1:p.Leu228Ser
CA374109516
NM_001243743.2:c.683T>C