ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104882
Gene: SHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8894
ClinVar RCV Id:
RCV000009444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000184.1:p.Val332Ala
CA119988
NM_000193.4:c.995T>C