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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:
PA091271
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1474151
ClinVar RCV Id:
RCV001971049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Asp430Asn
CA313117
NM_000026.3:c.1288G>A