ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828034504
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835140
ClinVar RCV Id:
RCV001035959
RCV003461430
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Ser1080Thr
CA374111760
NM_001354918.1:c.3238T>A