ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825492304
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135906
ClinVar RCV Id:
RCV000123042
RCV002362751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Met215Val
CA332595
NM_001083603.3:c.643A>G