ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825498920
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.His1416Asn
CA5137913
NM_001083603.3:c.4246C>A