Allele Registry

Canonical Allele Identifier: PA916021148

Gene: SHH HGNC NCBI

ClinVar RCV:

RCV000009440

ClinVar Variation:

8890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001297391.1:p.Ile24Phe	CA119987 NM_001310462.2:c.70A>T