ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825503906
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1350625
ClinVar RCV Id:
RCV002042005
RCV004038874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Asp959Tyr
CA374111894
NM_001083604.3:c.2875G>T