ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825510804
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043129
ClinVar RCV Id:
RCV001347190
RCV002456505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Ala952Ser
CA374111934
NM_001083606.3:c.2854G>T