Canonical Allele Identifier: PA2825119237
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2449691
ClinVar RCV Id: RCV003171696 RCV003609270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Gln242Arg
CA196534147
NM_000264.5:c.725A>G