Canonical Allele Identifier: PA2828763880
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459868
ClinVar RCV Id: RCV000540788 RCV001172520 RCV002284406 RCV002330846 RCV003330761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Tyr1439Ser
CA1713687
NM_001378454.1:c.4316A>C