Canonical Allele Identifier: PA104882
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 8894
ClinVar RCV Id: RCV000009444

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000184.1:p.Val332Ala
CA119988
NM_000193.4:c.995T>C