Canonical Allele Identifier: PA658661574
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 448469
ClinVar RCV Id: RCV000518466 RCV000540747 RCV001584232 RCV002376955
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Gln2387His
CA7533860
NM_025137.4:c.7161A>T
CA392211876
NM_025137.4:c.7161A>C