ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497237
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_001077072.1:p.Asp1145Asn
CA5138155
NM_001083603.3:c.3433G>A