Canonical Allele Identifier: PA2825507899
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_001077074.1:p.Asp995Asn
CA5138155
NM_001083605.3:c.2983G>A