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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:
PA2826835500
Gene: NOD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97826
ClinVar RCV Id:
RCV000084081
RCV000954297
RCV001781414
RCV002262677
RCV002514472
RCV003974994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280486.1:p.Ser404Leu
CA150190
NM_001293557.2:c.1211C>T