ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825606251
Gene: STXBP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001244298
ClinVar Variation:
969042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120868.1:p.Gly538Cys
CA403162082
NM_001127396.3:c.1612G>T