ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825507117
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Thr627Met
CA5138410
NM_001083605.3:c.1880C>T