ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825512127
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8221
ClinVar RCV Id:
RCV000008704
RCV000532256
RCV001010144
RCV004547466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Ala242Thr
CA254347
NM_001083607.3:c.724G>A