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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:
PA2828751937
Gene: ADCY5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162090
ClinVar RCV Id:
RCV000255111
RCV000202545
RCV000622463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365188.1:p.Arg418Trp
CA347787
NM_001378259.1:c.1252C>T