ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825497144
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1730752
ClinVar RCV Id:
RCV002451761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Pro1124Ala
CA374111799
NM_001083603.3:c.3370C>G