Canonical Allele Identifier: PA2825122100
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040725
ClinVar RCV Id: RCV001344416 RCV002456491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Ile1148Thr
CA374111658
NM_000264.5:c.3443T>C