Canonical Allele Identifier: PA2825490265
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Phe1002Leu
CA5138214
NM_001083602.3:c.3006C>A
CA374112160
NM_001083602.3:c.3006C>G
CA374112165
NM_001083602.3:c.3004T>C