ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828031783
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Ala239Val
CA374114852
NM_001354918.1:c.716C>T