Canonical Allele Identifier: PA2573260330
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Asp423Glu
CA347261871
NM_015120.4:c.1269C>G
CA347261872
NM_015120.4:c.1269C>A