ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825497069
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1351084
ClinVar RCV Id:
RCV002051477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Lys1110Arg
CA374111884
NM_001083603.3:c.3329A>G