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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:
PA2825448395
Gene: PNKD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1477566
ClinVar RCV Id:
RCV001998387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070867.1:p.Ala33Ser
CA2103249
NM_001077399.3:c.97G>T