Canonical Allele Identifier: PA2828763889
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 240996
ClinVar RCV Id: RCV000233652 RCV001706267 RCV002265706 RCV002327139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Leu1443Phe
CA1713690
NM_001378454.1:c.4329G>T
CA347278151
NM_001378454.1:c.4329G>C