ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825121952
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043129
ClinVar RCV Id:
RCV001347190
RCV002456505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Ala1103Ser
CA374111934
NM_000264.5:c.3307G>T