ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766736
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426619
ClinVar RCV Id:
RCV000489710
RCV001088400
RCV002329166
RCV001172500
RCV002282171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Asn3922Ser
CA1715316
NM_001378454.1:c.11765A>G