Canonical Allele Identifier: PA2828762684
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 529379
ClinVar RCV Id: RCV000634790 RCV001584463 RCV002331134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg392Ser
CA1713060
NM_001378454.1:c.1174C>A