ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825487388
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Gly1182Ala
CA16612654
NM_001083602.3:c.3545G>C