ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825497176
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
646094
ClinVar RCV Id:
RCV000800312
RCV001815437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Ser1131Phe
CA374111756
NM_001083603.3:c.3392C>T