Canonical Allele Identifier: PA2825507468
Gene: PTCH1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Glu796Gln
CA5138317
NM_001083605.3:c.2386G>C