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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:
PA2827793062
Gene: KDM5C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372737
ClinVar RCV Id:
RCV000413218
RCV000624334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340910.1:p.Glu698Lys
CA16043292
NM_001353981.2:c.2092G>A