ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825512807
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Ser550Ile
CA5138447
NM_001083607.3:c.1649G>T