ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825498332
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Ser1325Phe
CA5137989
NM_001083603.3:c.3974C>T