Canonical Allele Identifier: PA2825490403
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1719708
ClinVar RCV Id: RCV002296804
ClinVar Variation Id: 2154676
ClinVar RCV Id: RCV003081904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Val1050Leu
CA374111856
NM_001083602.3:c.3148G>T
CA374111857
NM_001083602.3:c.3148G>C