ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825508446
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Asn1200Ser
CA374110413
NM_001083605.3:c.3599A>G