ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766613
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390504
ClinVar RCV Id:
RCV000434442
RCV000548287
RCV002451038
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg3804Thr
CA1715186
NM_001378454.1:c.11411G>C