ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828036667
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135906
ClinVar RCV Id:
RCV000123042
RCV002362751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341848.1:p.Met150Val
CA332595
NM_001354919.1:c.448A>G