Canonical Allele Identifier: PA2825512112
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389591
ClinVar RCV Id: RCV000440703 RCV004022448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ile234Val
CA16605583
NM_001083607.3:c.700A>G