ClinGen Allele Registry
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Canonical Allele Identifier:
PA891858730
Gene: PTCHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775766.2:p.Val273Phe
CA10369074
NM_173495.3:c.817G>T