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
ENSP00000368666.4:p.Met771Ile
CA412587910
ENST00000379361.5:c.2313G>A
CA412587911
ENST00000379361.5:c.2313G>C
CA412587912
ENST00000379361.5:c.2313G>T