ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828111349
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2436396
ClinVar RCV Id:
RCV003487303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Ala1820Val
CA375076527
NM_001363759.2:c.5459C>T