Canonical Allele Identifier: PA2828766286
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2170177
ClinVar RCV Id: RCV003085209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr3538Ile
CA347284175
NM_001378454.1:c.10613C>T