Canonical Allele Identifier: PA2825119815
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 818475
ClinVar RCV Id: RCV001010090
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Asp390Tyr
CA374119305
NM_000264.5:c.1168G>T
CA645567510
NM_000264.5:c.1167_1168delinsAT