Canonical Allele Identifier: PA2825494339
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Ser553Arg
CA374118009
NM_001083603.3:c.1659C>G
CA374118010
NM_001083603.3:c.1659C>A
CA374118014
NM_001083603.3:c.1657A>C