ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825499558
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
826366
ClinVar RCV Id:
RCV002552394
RCV001025198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Thr62Ala
CA374115047
NM_001083604.3:c.184A>G