Canonical Allele Identifier: PA2825488258
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3230928
ClinVar RCV Id: RCV004523042
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Thr296Ser
CA374119506
NM_001083602.3:c.887C>G
CA374119509
NM_001083602.3:c.886A>T