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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:
PA2826762416
Gene: MPI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2165446
ClinVar RCV Id:
RCV003089981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276084.1:p.Ala47Gly
CA393169729
NM_001289155.2:c.140C>G