ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828762465
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241006
ClinVar RCV Id:
RCV000234342
RCV000445446
RCV001820750
RCV002356303
RCV001762541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Glu204Ala
CA1712898
NM_001378454.1:c.611A>C