ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825121970
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_000255.2:p.Asn1112Ser
CA374111876
NM_000264.5:c.3335A>G