Allele Registry

Canonical Allele Identifier: PA645417829

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000275888

RCV000333458

RCV000385681

RCV000963777

RCV004021366

RCV004549641

ClinVar Variation:

292999

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Arg1056Leu	CA1183155 NM_003126.2:c.3167G>T