ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828036206
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341848.1:p.Lys30Glu
CA5138992
NM_001354919.1:c.88A>G