Canonical Allele Identifier: PA104699
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 282694
ClinVar RCV Id: RCV000391488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000184.1:p.Pro347Arg
CA10604271
NM_000193.4:c.1040C>G