ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100998
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_000255.2:p.Ala393Thr
CA254347
NM_000264.5:c.1177G>A