Canonical Allele Identifier: PA2825497164
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 823707
ClinVar RCV Id: RCV001020167
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Ala1129Val
CA374111768
NM_001083603.3:c.3386C>T