Allele Registry

Canonical Allele Identifier: PA242555

Gene: SRCAP HGNC NCBI

ClinVar Allele:

193049

ClinVar RCV:

RCV000176568

RCV002485145

RCV002516709

RCV003907587

ClinVar Variation:

195888

HGVS (amino-acid)	Matching Registered Transcripts
NP_006653.2:p.Ser1452Leu	CA242554 NM_006662.3:c.4355C>T