ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826079969
Gene: SEC23B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95384
ClinVar RCV Id:
RCV000081403
RCV001843475
RCV003764767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166217.1:p.Ala506Val
CA222937
NM_001172746.3:c.1517C>T