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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:
PA092837
Gene: PLD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
120224
ClinVar RCV Id:
RCV000106322
RCV002055264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026866.1:p.Val232Met
CA150790
NM_001031696.4:c.694G>A