ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828110292
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189430
RCV000816493
RCV001808477
RCV002345680
ClinVar Variation:
207261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Asn385Ser
CA318562
NM_001363759.2:c.1154A>G