ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825492247
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037036
ClinVar RCV Id:
RCV001340129
RCV002357180
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Lys204Thr
CA374115098
NM_001083603.3:c.611A>C