Allele Registry

Canonical Allele Identifier: PA2827310756

Gene: MKS1 HGNC NCBI

ClinVar Allele:

329161

ClinVar RCV:

RCV000321171

RCV000384944

RCV000730592

RCV001086823

RCV004537814

ClinVar Variation:

324166

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317326.1:p.Arg164His	CA8669506 NM_001330397.2:c.491G>A