ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318628
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189469
RCV001463485
RCV003457651
ClinVar Variation:
207296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Asn1883Ser
CA318627
NM_001130438.3:c.5648A>G