ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828036513
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341848.1:p.Ser115Leu
CA196536890
NM_001354919.1:c.344C>T