ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828031636
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1750238
ClinVar RCV Id:
RCV002353505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Gln196Arg
CA374115164
NM_001354918.1:c.587A>G