ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495699
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393370
ClinVar RCV Id:
RCV000445480
RCV000592736
RCV000727320
RCV001081278
RCV002418344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg681Gly
CA1713262
NM_015120.4:c.2041C>G