Canonical Allele Identifier: PA645495809
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 337017
ClinVar RCV Id: RCV000343648 RCV003910301
ClinVar Variation Id: 2181471
ClinVar RCV Id: RCV002606166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Lys1978Asn
CA10616149
NM_015120.4:c.5934G>C
CA347283980
NM_015120.4:c.5934G>T