Canonical Allele Identifier: PA2825487539
Gene: PTCH1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Asn1282Lys
CA374110424
NM_001083602.3:c.3846C>G
CA374110425
NM_001083602.3:c.3846C>A