Canonical Allele Identifier: PA2828766812
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991354
ClinVar RCV Id: RCV001279557 RCV004035491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Trp3987Arg
CA1715392
NM_001378454.1:c.11959T>C
CA347265915
NM_001378454.1:c.11959T>A