Canonical Allele Identifier: PA2825493135
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216366
ClinVar RCV Id: RCV000198141 RCV003165466
ClinVar Variation Id: 2028643
ClinVar RCV Id: RCV002863572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Phe375Leu
CA337678
NM_001083603.3:c.1125C>G
CA374119404
NM_001083603.3:c.1125C>A
CA374119409
NM_001083603.3:c.1123T>C