Canonical Allele Identifier: PA104176
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 8886
ClinVar RCV Id: RCV000009436 RCV000662212 RCV000662213 RCV000662214 RCV003137506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000184.1:p.Ala383Thr
CA340839
NM_000193.4:c.1147G>A