ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825503907
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
570133
ClinVar RCV Id:
RCV000690928
RCV001019996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Asp959His
CA374111895
NM_001083604.3:c.2875G>C