Allele Registry

Canonical Allele Identifier: PA241218

Gene: POMT2 HGNC NCBI

ClinVar RCV:

RCV000175458

RCV000543953

RCV000712836

RCV000763950

ClinVar Variation:

194965

HGVS (amino-acid)	Matching Registered Transcripts
NP_037514.2:p.Val635Ile	CA241216 NM_013382.7:c.1903G>A