Canonical Allele Identifier: PA2573262135
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490102
ClinVar RCV Id: RCV001978489 RCV004045312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Ser3548Arg
CA347284398
NM_015120.4:c.10642A>C
CA347284418
NM_015120.4:c.10644C>A
CA347284419
NM_015120.4:c.10644C>G