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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:
PA2825373716
Gene: DCLRE1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
257180
ClinVar RCV Id:
RCV000253217
RCV000307635
RCV001510060
RCV001723845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029030.1:p.His123Arg
CA5416704
NM_001033858.2:c.368A>G