Canonical Allele Identifier: PA2580138129
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731228
ClinVar RCV Id: RCV002452208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Leu989Val
CA374111712
NM_001083607.3:c.2965C>G