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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:
PA658831401
Gene: ASL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
554299
ClinVar RCV Id:
RCV000669909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020114.1:p.Arg297Gln
CA4277165
NM_001024943.2:c.890G>A