Allele Registry

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Canonical Allele Identifier: PA2825487284

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966913

ClinVar RCV Id: RCV001241702 RCV001586083

ClinVar Variation Id: 1012621

ClinVar RCV Id: RCV001310664

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077071.1:p.Gly1070Arg	CA374111738 NM_001083602.3:c.3208G>C CA374111739 NM_001083602.3:c.3208G>A