ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104545
Gene: SHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8890
ClinVar RCV Id:
RCV000009440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000184.1:p.Ile111Phe
CA119987
NM_000193.4:c.331A>T