Canonical Allele Identifier: PA2499280246
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1053023
ClinVar RCV Id: RCV001361309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.His2595Tyr
CA1714348
NM_015120.4:c.7783C>T