ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825488282
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3230932
ClinVar RCV Id:
RCV004523046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Tyr307Cys
CA374119428
NM_001083602.3:c.920A>G