Canonical Allele Identifier: PA2825121988
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1719708
ClinVar RCV Id: RCV002296804
ClinVar Variation Id: 2154676
ClinVar RCV Id: RCV003081904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Val1116Leu
CA374111856
NM_000264.5:c.3346G>T
CA374111857
NM_000264.5:c.3346G>C