ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970232
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409153
ClinVar RCV Id:
RCV000465324
RCV004022719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Ile957Val
CA16612665
NM_001083607.3:c.2869A>G