ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828763759
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449841
ClinVar RCV Id:
RCV000522241
RCV002481704
RCV002358409
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Val1342Ile
CA1713624
NM_001378454.1:c.4024G>A