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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:
PA2828324611
Gene: PRKAR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
570932
ClinVar RCV Id:
RCV000691927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356319.1:p.Ala99Val
CA400752409
NM_001369390.1:c.296C>T