Canonical Allele Identifier: PA2828765177
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163579
ClinVar RCV Id: RCV003073364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys2584Asn
CA1714340
NM_001378454.1:c.7752G>C
CA347263996
NM_001378454.1:c.7752G>T