ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825500035
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Pro148Leu
CA5138826
NM_001083604.3:c.443C>T