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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:
PA2825115983
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2082296
ClinVar RCV Id:
RCV002979939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Ile134Ser
CA339848862
NM_000310.4:c.401T>G