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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:
PA2826907807
Gene: CAD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2164820
ClinVar RCV Id:
RCV003088229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293008.1:p.Arg779Cys
CA346211555
NM_001306079.2:c.2335C>T