ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828034528
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1046910
ClinVar RCV Id:
RCV001351531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Leu1086Val
CA374111726
NM_001354918.1:c.3256C>G