Canonical Allele Identifier: PA2825506261
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 524525
ClinVar RCV Id: RCV000628358
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Lys240Arg
CA374119295
NM_001083605.3:c.719A>G