ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825501883
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.His483Asn
CA374116086
NM_001083604.3:c.1447C>A