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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:
PA2580139022
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1946728
ClinVar RCV Id:
RCV002659128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Glu309Gly
CA412174585
NM_001085427.3:c.926A>G