Canonical Allele Identifier: PA658828404
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 554111
ClinVar RCV Id: RCV000669679 RCV001546991 RCV002406511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Phe2605Leu
CA1714353
NM_015120.4:c.7815C>G
CA347264115
NM_015120.4:c.7813T>C
CA347264120
NM_015120.4:c.7815C>A