Canonical Allele Identifier: PA2825122041
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 823707
ClinVar RCV Id: RCV001020167
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Ala1130Val
CA374111768
NM_000264.5:c.3389C>T