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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:
PA091623
Gene: ARSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11528
ClinVar RCV Id:
RCV000012284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000038.2:p.Pro578Ser
CA341096
NM_000047.3:c.1732C>T