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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:
PA916029105
Gene: ARV1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429868
ClinVar RCV Id:
RCV000493727
RCV002524037
RCV002252139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333921.1:p.Asn252Thr
CA1450526
NM_001346992.2:c.755A>C