Canonical Allele Identifier: PA2825122084
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452343
ClinVar RCV Id: RCV003172437
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Glu1144Asp
CA374111685
NM_000264.5:c.3432G>T
CA374111686
NM_000264.5:c.3432G>C