ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741832404
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2763896
ClinVar RCV Id:
RCV003503317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Leu987Pro
CA374111724
NM_001083607.3:c.2960T>C