ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825513584
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221931
ClinVar RCV Id:
RCV000456174
RCV000207365
RCV004547503
RCV001019083
RCV003477708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Thr913Met
CA071573
NM_001083607.3:c.2738C>T