ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825508865
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1753216
ClinVar RCV Id:
RCV002354092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Thr62Arg
CA374115044
NM_001083606.3:c.185C>G