Canonical Allele Identifier: PA2825508083
Gene: PTCH1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Ser1072Leu
CA5138086
NM_001083605.3:c.3215C>T