ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828111346
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1357372
ClinVar RCV Id:
RCV001863800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Arg1813Trp
CA375076321
NM_001363759.2:c.5437C>T