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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:
PA2827516021
Gene: PLA2G6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159759
ClinVar RCV Id:
RCV000147314
RCV000537119
RCV002515979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336793.1:p.Arg710Cys
CA173253
NM_001349864.2:c.2128C>T