ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828034417
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1730347
ClinVar RCV Id:
RCV002326523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Asn1060Ser
CA374111876
NM_001354918.1:c.3179A>G