Canonical Allele Identifier: PA2828034457
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019544
ClinVar RCV Id: RCV001318990 RCV002456429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Met1070Lys
CA196571104
NM_001354918.1:c.3209T>A