Canonical Allele Identifier: PA2828765314
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3006254
ClinVar RCV Id: RCV003866405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr2712Ile
CA347267600
NM_001378454.1:c.8135C>T