ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825503499
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161356
ClinVar RCV Id:
RCV000148763
RCV000553221
RCV002433641
RCV003477565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Arg831Gln
CA211754
NM_001083604.3:c.2492G>A