Canonical Allele Identifier: PA2828764600
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 337020
ClinVar RCV Id: RCV000358463 RCV003910302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2047Thr
CA10616150
NM_001378454.1:c.6139T>A