ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916042908
Gene: PTCH1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001341847.1:p.Ala393Thr
NM_001354918.1:c.1177G>A