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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:
PA2825519143
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2759633
ClinVar RCV Id:
RCV003500207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078895.2:p.Gly310Ser
CA412174565
NM_001085426.3:c.928G>A