Canonical Allele Identifier: PA2825500406
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060129
ClinVar RCV Id: RCV001369511 RCV003355442
ClinVar Variation Id: 3230931
ClinVar RCV Id: RCV004523045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Met221Ile
CA374119432
NM_001083604.3:c.663G>T
CA374119433
NM_001083604.3:c.663G>C
CA374119434
NM_001083604.3:c.663G>A