Canonical Allele Identifier: PA915970331
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428843
ClinVar RCV Id: RCV000492461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Phe996Ser
CA374111664
NM_001083607.3:c.2987T>C