ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828034544
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2626237
ClinVar RCV Id:
RCV003382217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Ser1091Cys
CA374111695
NM_001354918.1:c.3272C>G