ClinGen Allele Registry
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Canonical Allele Identifier:
PA645496003
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423980
ClinVar RCV Id:
RCV000481715
RCV000825863
RCV000704301
RCV002356791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ser3863Pro
CA1715252
NM_015120.4:c.11587T>C