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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:
PA2825005801
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2175224
ClinVar RCV Id:
RCV002579061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Val429Ala
CA324460759
NM_000026.3:c.1286T>C