ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826203994
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000449497
RCV000474048
RCV001705046
RCV001808489
ClinVar Variation:
207286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Asp1327Asn
CA318609
NM_001195532.2:c.3979G>A