Canonical Allele Identifier: PA2825121979
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 823625
ClinVar RCV Id: RCV001020024 RCV001197547 RCV001049606 RCV003478642
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Arg1113Cys
CA5138167
NM_000264.5:c.3337C>T