Canonical Allele Identifier: PA2825493229
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_001077072.1:p.Asp389His
CA374119306
NM_001083603.3:c.1165G>C