ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828766446
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194660
ClinVar RCV Id:
RCV000175083
RCV000634776
RCV002426835
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Leu3673Ile
CA240750
NM_001378454.1:c.11017C>A