ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766393
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390222
ClinVar RCV Id:
RCV000431898
RCV000766969
RCV001086177
RCV002418323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg3631His
CA1715085
NM_001378454.1:c.10892G>A