Canonical Allele Identifier: PA2828033107
Gene: PTCH1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Asp658Glu
CA5138446
NM_001354918.1:c.1974C>A
CA374115592
NM_001354918.1:c.1974C>G