Canonical Allele Identifier: PA2828764323
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241002
ClinVar RCV Id: RCV000233437 RCV000428195 RCV000445537 RCV001795371 RCV002347903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys1811Asn
CA1713883
NM_001378454.1:c.5433G>C
CA347282097
NM_001378454.1:c.5433G>T