ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825511982
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.His177Leu
CA374119741
NM_001083607.3:c.530A>T