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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:
PA2828206876
Gene: CARD14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31609
ClinVar RCV Id:
RCV000024313
RCV000059699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353314.1:p.Glu138Ala
CA129844
NM_001366385.1:c.413A>C