ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580137802
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Met992Thr
CA374112224
NM_001083602.3:c.2975T>C