Canonical Allele Identifier: PA915970226
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219475
ClinVar RCV Id: RCV000204886 RCV001019931 RCV002508197 RCV003462362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Thr955Met
CA349072
NM_001083607.3:c.2864C>T