Canonical Allele Identifier: PA1139678218
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953505
ClinVar RCV Id: RCV001225806
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Leu51Phe
CA5138893
NM_001083607.3:c.153G>T
CA374115117
NM_001083607.3:c.153G>C