Canonical Allele Identifier: PA2825490402
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453848
ClinVar RCV Id: RCV000558601 RCV002323898 RCV003459158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Val1050Met
CA5138165
NM_001083602.3:c.3148G>A