ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764853
Gene: PTCHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775766.2:p.Gly300Arg
CA412580746
NM_173495.3:c.898G>C