Canonical Allele Identifier: PA2828765139
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2636906
ClinVar RCV Id: RCV003421082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gln2561Lys
CA347263839
NM_001378454.1:c.7681C>A