ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825119181
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
826366
ClinVar RCV Id:
RCV002552394
RCV001025198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Thr213Ala
CA374115047
NM_000264.5:c.637A>G