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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:
PA2827516654
Gene: PLA2G6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159761
ClinVar RCV Id:
RCV000147316
RCV000254887
RCV000778662
RCV000793778
RCV002515980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336794.1:p.Asp685His
CA173256
NM_001349865.2:c.2053G>C