Canonical Allele Identifier: PA2828765306
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2637825
ClinVar RCV Id: RCV003405123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro2705Leu
CA347267503
NM_001378454.1:c.8114C>T