ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825490494
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040725
ClinVar RCV Id:
RCV001344416
RCV002456491
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Ile1082Thr
CA374111658
NM_001083602.3:c.3245T>C