Canonical Allele Identifier: PA2828765817
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393378
ClinVar RCV Id: RCV001552478 RCV000445473 RCV002374731 RCV000577939 RCV001193867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro3130Arg
CA1714652
NM_001378454.1:c.9389C>G