Canonical Allele Identifier: PA2825513650
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231014
ClinVar RCV Id: RCV004523128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ile997Leu
CA374111661
NM_001083607.3:c.2989A>C