Canonical Allele Identifier: PA915970316
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161355
ClinVar RCV Id: RCV000148762 RCV000570061 RCV003462056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ala990Val
CA272946
NM_001083607.3:c.2969C>T