ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825508373
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Ser1175Phe
CA5137989
NM_001083605.3:c.3524C>T