ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825493108
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
958443
ClinVar RCV Id:
RCV001231612
RCV002436903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Lys369Arg
CA5138758
NM_001083603.3:c.1106A>G