ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828111338
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2957151
ClinVar RCV Id:
RCV003818838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Val1804Met
CA375076073
NM_001363759.2:c.5410G>A