Allele Registry

Canonical Allele Identifier: PA2741869995

Gene: SHANK3 HGNC NCBI

ClinVar Allele:

362436

ClinVar RCV:

RCV000417108

ClinVar Variation:

375622

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358973.1:p.Val419Leu	CA16044390 NM_001372044.2:c.1255G>T CA515250770 NM_001372044.2:c.1255G>C