ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825492556
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Asn271Asp
CA5138836
NM_001083603.3:c.811A>G