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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:
PA2573181909
Gene: ASPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1437568
ClinVar RCV Id:
RCV001948763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121557.1:p.Arg233Gln
CA8289014
NM_001128085.1:c.698G>A