Canonical Allele Identifier: PA254350
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8221
ClinVar RCV Id: RCV000008704 RCV000532256 RCV001010144 RCV004547466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Ala327Thr
CA254347
NM_001083602.3:c.979G>A