ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825503469
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Glu819Lys
CA374112811
NM_001083604.3:c.2455G>A