Canonical Allele Identifier: PA891845226
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Gly1217Arg
CA5138092
NM_000264.5:c.3649G>A
CA374111223
NM_000264.5:c.3649G>C