ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658677365
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453908
ClinVar RCV Id:
RCV000526834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Cys203Tyr
CA374115112
NM_000264.5:c.608G>A