Canonical Allele Identifier: PA2828031698
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135906
ClinVar RCV Id: RCV000123042 RCV002362751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Met216Val
CA332595
NM_001354918.1:c.646A>G