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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:
PA645485606
Gene: ADCY5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377449
ClinVar RCV Id:
RCV000417456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_899200.1:p.Arg695Trp
CA16604794
NM_183357.3:c.2083C>T