Canonical Allele Identifier: PA2828034555
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409155
ClinVar RCV Id: RCV000459818 RCV001020304 RCV002481435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Asp1094Asn
CA5138155
NM_001354918.1:c.3280G>A