Canonical Allele Identifier: PA1139737972
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 950405
ClinVar RCV Id: RCV001222106
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Asp390His
CA374119306
NM_001354918.1:c.1168G>C