Canonical Allele Identifier: PA2825492308
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067905
ClinVar RCV Id: RCV002970748
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Asp216Tyr
CA374115021
NM_001083603.3:c.646G>T