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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:
PA155064
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130224
ClinVar RCV Id:
RCV000118260
RCV000379925
RCV000860054
RCV001640094
RCV002312496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Arg19Lys
CA155062
NM_021007.3:c.56G>A