ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825508339
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Pro1164Leu
CA145939
NM_001083605.3:c.3491C>T