Allele Registry

Canonical Allele Identifier: PA645463168

Gene: SPG7 HGNC NCBI

ClinVar RCV:

RCV000236780

RCV001847905

ClinVar Variation:

217268

HGVS (amino-acid)	Matching Registered Transcripts
NP_003110.1:p.Pro750Leu	CA10575797 NM_003119.4:c.2249C>T