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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:
PA2827460301
Gene: PLA2G6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159739
ClinVar RCV Id:
RCV000147294
RCV000412963
RCV001823117
RCV001849993
RCV002514833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336798.1:p.Arg306His
CA173217
NM_001349869.2:c.917G>A