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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:
PA2826085729
Gene: WHRN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
937160
ClinVar RCV Id:
RCV001206119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166896.1:p.Asn557Ser
CA374621160
NM_001173425.1:c.1670A>G