Canonical Allele Identifier: PA2828763403
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198870
ClinVar RCV Id: RCV000418778 RCV002321711 RCV000634783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr1031Ser
CA247726
NM_001378454.1:c.3092C>G
CA347273767
NM_001378454.1:c.3091A>T