ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825487256
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043129
ClinVar RCV Id:
RCV001347190
RCV002456505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Ala1037Ser
CA374111934
NM_001083602.3:c.3109G>T