ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828034561
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1448301
ClinVar RCV Id:
RCV001997095
RCV002458871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Ile1096Met
CA374111656
NM_001354918.1:c.3288T>G