Canonical Allele Identifier: PA645495797
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_055935.4:p.Lys1812Asn
CA1713883
NM_015120.4:c.5436G>C
CA347282097
NM_015120.4:c.5436G>T