ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA318589
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189444
RCV001058848
RCV001288013
RCV001808485
RCV003258690
ClinVar Variation:
207274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Thr963Met
CA318588
NM_001130438.3:c.2888C>T