This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PTCHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543751.1:p.Thr667Ser
CA412586993
XM_011545449.3:c.1999A>T
CA412586997
XM_011545449.3:c.2000C>G