Canonical Allele Identifier: PA263236
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 50949
ClinVar RCV Id: RCV000043655 RCV001804766
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_277052.1:p.Pro141Ala
CA263235
NM_033517.1:c.421C>G