ClinGen Allele Registry
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Canonical Allele Identifier:
PA645506553
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409155
ClinVar RCV Id:
RCV000459818
RCV001020304
RCV002481435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Asp1146Asn
CA5138155
NM_000264.5:c.3436G>A