ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA332446
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Leu330Val
CA332443
NM_001083602.3:c.988C>G