ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645506551
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428835
ClinVar RCV Id:
RCV000492738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Val1137_Ala1141del
CA645369447
NM_000264.5:c.3410_3424del