Canonical Allele Identifier: PA2825510821
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2888353
ClinVar RCV Id: RCV003610784

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Asn961Lys
CA374111873
NM_001083606.3:c.2883C>A
CA374111874
NM_001083606.3:c.2883C>G