ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825490498
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2449648
ClinVar RCV Id:
RCV003171667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Ile1082Ser
CA374111657
NM_001083602.3:c.3245T>G