ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825490409
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040630
ClinVar RCV Id:
RCV001344306
RCV003169660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Met1056Val
CA374111821
NM_001083602.3:c.3166A>G