Canonical Allele Identifier: PA2828763007
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393370
ClinVar RCV Id: RCV000445480 RCV000592736 RCV000727320 RCV001081278 RCV002418344
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg680Gly
CA1713262
NM_001378454.1:c.2038C>G