ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825487483
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Arg1253Cys
CA5137992
NM_001083602.3:c.3757C>T