ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825490430
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2182243
ClinVar RCV Id:
RCV002596073
RCV003294542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Val1065Ala
CA374111763
NM_001083602.3:c.3194T>C