ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825498468
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Pro1348Leu
CA5137968
NM_001083603.3:c.4043C>T