ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825487950
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037036
ClinVar RCV Id:
RCV001340129
RCV002357180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Lys139Thr
CA374115098
NM_001083602.3:c.416A>C