ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828031686
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2911465
ClinVar RCV Id:
RCV003609785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Thr211Ser
CA374115060
NM_001354918.1:c.631A>T