Canonical Allele Identifier: PA332599
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135906
ClinVar RCV Id: RCV000123042 RCV002362751
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Met216Val
CA332595
NM_000264.5:c.646A>G