ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573100027
Gene: PTCHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775766.2:p.Leu285Val
CA412580641
NM_173495.3:c.853C>G