ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339442
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Val1315Met
CA339439
NM_001083602.3:c.3943G>A