Canonical Allele Identifier: PA2828765297
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 554109
ClinVar RCV Id: RCV000669677 RCV001556302 RCV002422454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys2692Glu
CA1714396
NM_001378454.1:c.8074A>G