ClinGen Allele Registry
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Canonical Allele Identifier:
PA916044146
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
661303
ClinVar RCV Id:
RCV000818691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Ala1865Asp
CA375077438
NM_001363759.2:c.5594C>A