Canonical Allele Identifier: PA2828763589
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2193974
ClinVar RCV Id: RCV002624169 RCV003294563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gly1199Ala
CA347275995
NM_001378454.1:c.3596G>C