Canonical Allele Identifier: PA332026
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132723
ClinVar RCV Id: RCV000492441 RCV000207364 RCV000588636 RCV001166719 RCV001084106 RCV004551169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Tyr1250Cys
CA332023
NM_001083602.3:c.3749A>G