Canonical Allele Identifier: PA2825505849
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953505
ClinVar RCV Id: RCV001225806

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Leu51Phe
CA5138893
NM_001083605.3:c.153G>T
CA374115117
NM_001083605.3:c.153G>C