Canonical Allele Identifier: PA2828034392
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043129
ClinVar RCV Id: RCV001347190 RCV002456505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Ala1051Ser
CA374111934
NM_001354918.1:c.3151G>T