Canonical Allele Identifier: PA2825119742
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3230928
ClinVar RCV Id: RCV004523042
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Thr362Ser
CA374119506
NM_000264.5:c.1085C>G
CA374119509
NM_000264.5:c.1084A>T