Canonical Allele Identifier: PA2580138135
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452343
ClinVar RCV Id: RCV003172437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Glu993Asp
CA374111685
NM_001083607.3:c.2979G>T
CA374111686
NM_001083607.3:c.2979G>C