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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:
PA2828310175
Gene: ARSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427005
ClinVar RCV Id:
RCV000489401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356009.1:p.Arg136Cys
CA412267620
NM_001369080.1:c.406C>T