Allele Registry

Canonical Allele Identifier: PA645495962

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000479594

RCV001085744

RCV002383930

ClinVar Variation:

423504

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Asp3295His	CA1714798 NM_015120.4:c.9883G>C