ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104132
Gene: SHH
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000184.1:p.Ala226Thr
NM_000193.4:c.676G>A