Canonical Allele Identifier: PA2741832405
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2626237
ClinVar RCV Id: RCV003382217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ser992Cys
CA374111695
NM_001083607.3:c.2975C>G