Canonical Allele Identifier: PA2825497062
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2497341
ClinVar RCV Id: RCV003213796

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Asp1109Glu
CA374111889
NM_001083603.3:c.3327C>G
CA374111890
NM_001083603.3:c.3327C>A