ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825508861
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
826296
ClinVar RCV Id:
RCV001025084
RCV003609177
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Ile59Val
CA374115067
NM_001083606.3:c.175A>G