Allele Registry

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.

Canonical Allele Identifier: PA109003

Gene: SEC23B HGNC NCBI

Linked Data

ClinVar Variation Id: 1224

ClinVar RCV Id: RCV000001283 RCV003480015 RCV003764507

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166216.1:p.Arg530Trp	CA114849 NM_001172745.3:c.1588C>T