Canonical Allele Identifier: PA2825507845
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036629
ClinVar RCV Id: RCV001339667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.His970Leu
CA374111824
NM_001083605.3:c.2909A>T