ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825510906
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2897407
ClinVar RCV Id:
RCV003610921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Arg999Gly
CA5138153
NM_001083606.3:c.2995A>G