Canonical Allele Identifier: PA2825504039
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960138
ClinVar RCV Id: RCV001233608 RCV003166434 RCV003462793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Leu983Val
CA374111748
NM_001083604.3:c.2947C>G