Canonical Allele Identifier: PA2828764690
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392543
ClinVar RCV Id: RCV000421757 RCV000445488 RCV001272958 RCV002365572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Val2121Leu
CA1714056
NM_001378454.1:c.6361G>C