Canonical Allele Identifier: PA915970333
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220370
ClinVar RCV Id: RCV000206748 RCV000414011 RCV000575762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ile997Val
CA350753
NM_001083607.3:c.2989A>G