Canonical Allele Identifier: PA2828034462
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404536
ClinVar RCV Id: RCV001901694 RCV002458770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Ala1072Val
CA5138163
NM_001354918.1:c.3215C>T