Canonical Allele Identifier: PA2825119840
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 854277
ClinVar RCV Id: RCV001059293 RCV002348432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Gln400His
CA374119237
NM_000264.5:c.1200G>T
CA374119238
NM_000264.5:c.1200G>C