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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:
PA2825335268
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1349160
ClinVar RCV Id:
RCV002035140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Leu407Phe
CA371655798
NM_001024688.3:c.1219C>T