Canonical Allele Identifier: PA2825497169
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2182243
ClinVar RCV Id: RCV002596073 RCV003294542
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Val1130Ala
CA374111763
NM_001083603.3:c.3389T>C