ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915970301
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428851
ClinVar RCV Id:
RCV000492102
RCV001319080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Thr982Ala
CA374111755
NM_001083607.3:c.2944A>G