Canonical Allele Identifier: PA1139678495
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 941537
ClinVar RCV Id: RCV001211332 RCV003163608 RCV003319451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Glu969Lys
CA374111837
NM_001083607.3:c.2905G>A