Allele Registry

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Canonical Allele Identifier: PA2825507880

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_001077074.1:p.Gly985Arg	CA374111738 NM_001083605.3:c.2953G>C CA374111739 NM_001083605.3:c.2953G>A