Canonical Allele Identifier: PA2828034410
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2497341
ClinVar RCV Id: RCV003213796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Asp1058Glu
CA374111889
NM_001354918.1:c.3174C>G
CA374111890
NM_001354918.1:c.3174C>A