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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:
PA2826448357
Gene: CARD14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393957
ClinVar RCV Id:
RCV001884666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244899.1:p.Glu126Gln
CA294858018
NM_001257970.1:c.376G>C