ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825513800
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.His1064Asn
CA374111239
NM_001083607.3:c.3190C>A