Canonical Allele Identifier: PA2828762838
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403950
ClinVar RCV Id: RCV000476920 RCV000732324 RCV001172510 RCV001358710 RCV002393077
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Leu537Val
CA1713199
NM_001378454.1:c.1609C>G