ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828110068
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189426
RCV001510356
RCV001808474
RCV004020292
ClinVar Variation:
207257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Arg139Gln
CA318555
NM_001363759.2:c.416G>A